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SsSNPTarget

From SNPedia

http://variome.kobic.re.kr/ssSNPTarget/download.jsp

#rsID	trxID	chr	snp_chromStart	snp_chromEnd	snp_strand	exonNum	ss_pos	ss_strength	genotype	splice_site	changes	after_strength	class	location	domain	symbol	disease
rs10135021	uc001yrq.1	chr14	105747036	105747036	+	592	3splicesite	-28.0	C/G	GA	GA->(G/C)A	12.12,-2.34	single	3UTR	-	-	-
rs10136467	uc001yrq.1	chr14	105631025	105631025	+	1028	3splicesite	-1.0	C/T	AT	AT->(G/A)T	6.41,-2.34	single	3UTR	-	-	-
rs10139594	uc001yrq.1	chr14	105919112	105919112	+	185	3splicesite	-15.0	A/G	AT	AT->A(T/C)	6.41,-2.34	single	3UTR	-	-	-
rs10152051	uc001yrq.1	chr14	105644604	105644604	+	987	3splicesite	-21.0	A/G	CT	CT->C(T/C)	6.41,-0.07	single	3UTR	-	-	-
rs10202288	ENST00000343510	chr2	37405169	37405169	+	1	5splicesite	-9.0	C/T	AC	AC->(G/A)C		single	3UTR	-	-	-
rs10202288	ENST00000233057	chr2	37405169	37405169	+	1	5splicesite	-9.0	C/T	AC	AC->(G/A)C		single	3UTR	-	EIF2AK2	hepatitis B|12447867|GAD || hepatitis C|12944978|GAD
rs10305900	ENST00000394047	chr4	148661019	148661019	+	4	3splicesite	0.0	G/T	TG	TG->(G/T)G	9.37,1.42	single	CDS	-	-	-
rs1044178	ENST00000394447	chr15	87545665	87545665	-	3	3splicesite	-8.0	G/T	TG	TG->T(G/T)	-0.65,8.10	single	3UTR	-	-	-
rs1044178	ENST00000394447	chr15	87545665	87545665	-	2	5splicesite	-12.0	G/T	TG	TG->T(G/T)		single	3UTR	-	-	-
rs10441874	ENST00000366256	chr9	66213303	66213303	+	1	5splicesite	-24.0	A/T	TT	TT->(A/T)T		single	3UTR	-	-	-
rs10441874	ENST00000366256	chr9	66213303	66213303	+	2	3splicesite	-29.0	A/T	AT	AT->A(A/T)	11.66	single	3UTR	-	-	-
rs1044447	ENST00000357204	chr22	20991652	20991652	+	1	5splicesite	-15.0	A/G	GA	GA->G(A/G)		single	CDS	-	-	-
rs1047588	ENST00000235290	chr1	63787527	63787527	+	1	5splicesite	-29.0	A/T	TC	TC->(A/T)C		single	CDS	-	-	-
rs1047588	ENST00000235290	chr1	63787527	63787527	+	2	3splicesite	-29.0	A/T	CT	CT->C(A/T)	10.71,8.92	single	CDS	-	-	-
rs1052145	ENST00000304214	chrX	102771700	102771700	+	4	5splicesite	-24.0	G/T	GC	GC->(G/T)C		single	CDS	PF06137.3	-	-
rs1052896	ENST00000395582	chr5	112958851	112958851	+	15	3splicesite	-11.0	A/G	AA	AA->A(A/G)	2.19,10.79	single	3UTR	-	-	-
rs1053366	ENST00000243186	chr1	25584894	25584894	-	8	3splicesite	-21.0	A/C	CA	CA->C(A/C)	-0.13,-4.62	single	CDS	PF00909.12	-	-
rs1059830	uc001agx.1	chr1	1640657	1640657	+	4	5splicesite	-17.0	A/G	TG	TG->(T/C)G		single	CDS	PF07714.8,PF00069.16	CDC2L1	-
rs1059830	uc001agy.1	chr1	1640657	1640657	+	4	5splicesite	-17.0	A/G	TG	TG->(T/C)G		single	CDS	PF07714.8,PF00069.16	CDC2L1	-
rs1059830	uc001ahr.1	chr1	1640657	1640657	+	4	5splicesite	-17.0	A/G	TG	TG->(T/C)G		single	CDS	PF07714.8,PF00069.16	-	-
rs1059830	uc001agw.1	chr1	1640657	1640657	+	5	5splicesite	-17.0	A/G	TG	TG->(T/C)G		single	CDS	PF07714.8,PF00069.16	CDC2L1	-
rs1062968	ENST00000376010	chr6	31699545	31699545	+	4	3splicesite	-13.0	C/G	CA	CA->(C/G)A	-1.48,0.79	single	CDS	-	-	-
rs1062968	ENST00000396046	chr6	31699545	31699545	+	4	3splicesite	-13.0	C/G	CA	CA->(C/G)A	-0.08,8.67	single	CDS	-	-	-
rs1064032	ENST00000354032	chr7	27175727	27175727	-	1	5splicesite	-15.0	C/G	CC	CC->C(C/G)		single	CDS	PF00046.20	HOXA9	-
rs10800841	uc001gyd.1	chr1	200832059	200832059	+	10	3splicesite	1.0	C/T	AT	AT->(G/A)T	11.69,3.63	single	5UTR	-	SYT2	-
rs10839551	ENST00000396824	chr11	6297973	6297973	+	2	3splicesite	-20.0	C/T	GC	GC->(G/A)C	3.52,12.27	single	CDS	-	-	-
rs10839551	ENST00000396824	chr11	6297973	6297973	+	1	5splicesite	-31.0	C/T	GC	GC->(G/A)C		single	CDS	-	-	-
rs10840332	ENST00000399502	chr11	9937077	9937077	+	5	5splicesite	-24.0	C/T	CA	CA->C(G/A)		single	3UTR	-	-	-
rs10846559	uc001ufs.1	chr12	122840427	122840427	+	6	3splicesite	-23.0	A/G	AT	AT->(A/G)T	-5.89,2.17	single	CDS	PF08385.3	DNAH10	-
rs10899795	ENST00000374451	chr10	43189103	43189103	+	3	3splicesite	-7.0	A/C	TC	TC->T(A/C)	1.20,9.95	single	5UTR	-	FXYD4	-
rs10901231	uc004ccl.1	chr9	134949147	134949147	+	2	5splicesite	-19.0	A/C	CC	CC->(A/C)C		single	3UTR	-	-	-
rs10986468	ENST00000353214	chr9	126664500	126664500	+	1	5splicesite	-1.0	A/T	GA	GA->G(A/T)		single	5UTR	-	ARPC5L	-
rs11042902	ENST00000308763	chr11	10612199	10612199	+	2	3splicesite	-2.0	C/T	GG	GG->(G/A)G	9.86,7.75	single	CDS	-	-	-
rs11065655	ENST00000377854	chr12	108061848	108061848	+	3	3splicesite	-34.0	C/T	CC	CC->C(C/T)	2.57,1.63	single	CDS	-	-	-
rs11065655	ENST00000338432	chr12	108061848	108061848	+	3	3splicesite	-34.0	C/T	CC	CC->C(C/T)	5.14,11.65	single	CDS	-	-	-
rs1139244	ENST00000259090	chr8	11603426	11603426	+	3	5splicesite	-22.0	C/G	CG	CG->C(C/G)		single	CDS	PF05349.3	GATA4	Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD
rs1141015	uc001edl.1	chr1	114041486	114041486	-	18	5splicesite	-23.0	G/T	TA	TA->(G/T)A		single	5UTR	-	PHTF1	-
rs1141016	uc001edl.1	chr1	114041485	114041485	-	18	5splicesite	-23.0	A/C	TA	TA->T(A/C)		single	5UTR	-	PHTF1	-
rs1141175	ENST00000396243	chrX	54608140	54608140	+	19	3splicesite	-13.0	A/G	AC	AC->(A/G)C	0.71,9.46	single	3UTR	-	-	-
rs1153847	ENST00000396655	chr15	43484182	43484182	-	1	5splicesite	-30.0	A/G	TA	TA->(T/C)A		single	3UTR	-	SPATA5L1	-
rs11539927	uc003bqr.1	chr3	8589542	8589542	+	1	5splicesite	-17.0	G/T	TG	TG->T(G/T)		single	CDS	-	-	-
rs11539927	uc003bqr.1	chr3	8589542	8589542	+	2	3splicesite	-7.0	G/T	GA	GA->(G/T)A	-2.41,-2.39	single	CDS	-	-	-
rs11549095	ENST00000374475	chr1	24067026	24067026	-	2	3splicesite	-14.0	A/G	GC	GC->(A/G)C	1.20,9.95	single	CDS	PF01120.8	-	-
rs11551842	ENST00000351322	chr4	155753170	155753170	-	1	5splicesite	-7.0	A/C	CT	CT->(A/C)T		single	CDS	-	-	-
rs11552060	ENST00000366401	chr17	2887421	2887421	-	2	3splicesite	-2.0	C/G	CG	CG->(G/C)G	2.75,8.70	single	3UTR	-	-	-
rs11552325	ENST00000326873	chr19	1169499	1169499	+	2	5splicesite	-7.0	C/T	AT	AT->A(C/T)		single	CDS	PF07714.8,PF00069.16	STK11	pancreatic cancer|15331174|GAD || Peutz-Jeghers syndrome|12865922|GAD || Peutz-Jegher's syndrome|10623683|GAD || Testicular tumor, sporadic|-|OMIM || Pancreatic cancer, sporadic|-|OMIM || Melanoma, malignant sporadic|-|OMIM || Peutz-Jeghers syndrome|15121768|GAD || Peutz-Jeghers syndrome ?|blocked|HGMD || Peutz-Jeghers syndrome|blocked|HGMD || Peutz-Jeghers syndrome|17344591|GAD || Peutz-Jeghers syndrome|15188174|GAD || Peutz-Jeghers syndrome|-|OMIM || lung cancer|17384680|GAD
rs11555932	ENST00000347546	chrX	54852978	54852978	+	3	5splicesite	-17.0	A/G	CA	CA->C(A/G)		single	CDS	-	-	-
rs11559076	ENST00000312613	chr16	88146906	88146906	+	20	5splicesite	-12.0	A/G	GA	GA->G(A/G)		single	CDS	-	-	-
rs11571790	ENST00000400497	chr13	31858044	31858044	+	4	5splicesite	-6.0	C/T	AT	AT->A(C/T)		single	3UTR	-	-	-
rs11589984	uc001fbg.1	chr1	151309956	151309956	+	2	3splicesite	-14.0	A/G	TC	TC->T(T/C)	-2.07,6.68	single	3UTR	-	SPRR2B	-
rs11626680	uc001yrq.1	chr14	105742631	105742631	+	614	5splicesite	-34.0	A/G	TC	TC->T(T/C)		single	3UTR	-	-	-
rs11627950	uc001yrq.1	chr14	105498904	105498904	+	1616	3splicesite	-23.0	G/T	AC	AC->(C/A)C	4.79	single	3UTR	-	-	-
rs11637032	ENST00000400226	chr15	18725170	18725170	+	6	5splicesite	-27.0	C/T	AG	AG->A(G/A)		single	CDS	-	-	-
rs11650229	ENST00000343048	chr17	75423653	75423653	+	5	5splicesite	-32.0	A/T	CA	CA->C(T/A)		single	CDS	-	-	-
rs11657804	uc002jia.1	chr17	64722587	64722587	+	10	3splicesite	-17.0	C/T	AT	AT->(G/A)T	7.79,-0.96	single	CDS	PF00005.18	ABCA10	-
rs11669101	uc002qcg.1	chr19	59002998	59002998	+	1	5splicesite	-38.0	C/T	AC	AC->(G/A)C		single	3UTR	-	NALP12	Familial cold autoinflammatory syndrome 2|-|OMIM
rs11676792	ENST00000389758	chr2	234397056	234397056	+	35	5splicesite	-4.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs11713201	ENST00000394214	chr3	97821247	97821247	+	3	3splicesite	-27.0	A/G	GC	GC->(A/G)C	-0.82,7.55	single	3UTR	-	-	-
rs11715636	ENST00000396019	chr3	44890254	44890254	+	3	3splicesite	-24.0	C/G	GT	GT->(C/G)T	0.73,9.48	single	3UTR	-	-	-
rs11749652	ENST00000303525	chr5	34991916	34991916	+	6	3splicesite	-12.0	A/G	AA	AA->A(A/G)	-0.24	single	CDS	-	DNAJC21	-
rs11846362	uc001yrq.1	chr14	105558818	105558818	+	1314	3splicesite	-22.0	A/C	GC	GC->(T/G)C	-3.81,0.32	single	3UTR	-	-	-
rs11848584	uc001yrq.1	chr14	105520073	105520073	+	1472	5splicesite	-12.0	G/T	CA	CA->C(C/A)		single	3UTR	-	-	-
rs11887528	uc002stk.1	chr2	89157579	89157579	+	47	3splicesite	-17.0	A/C	TG	TG->(T/G)G	7.07,-0.99	single	3UTR	-	-	-
rs12024305	uc001elm.1	chr1	143729263	143729263	+	3	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	3UTR	-	PDE4DIP	-
rs12100850	uc001yrq.1	chr14	105824144	105824144	+	318	3splicesite	-27.0	G/T	CC	CC->(C/A)C	9.07,0.32	single	3UTR	-	-	-
rs12100994	uc001yrq.1	chr14	105630045	105630045	+	1032	5splicesite	-13.0	A/G	TA	TA->(T/C)A		single	3UTR	-	-	-
rs12141152	ENST00000367636	chr1	176780788	176780788	+	1	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	-	-	-
rs12141152	ENST00000367638	chr1	176780788	176780788	+	2	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	-	-	-
rs12156891	ENST00000304314	chrX	47852134	47852134	+	1	5splicesite	-33.0	A/G	AC	AC->(A/G)C		single	5UTR	-	SSX6	-
rs12156891	ENST00000319275	chrX	47852134	47852134	+	1	5splicesite	-33.0	A/G	AC	AC->(A/G)C		single	5UTR	-	SSX6	-
rs12156891	uc004dix.1	chrX	47852134	47852134	+	1	5splicesite	-33.0	A/G	AC	AC->(A/G)C		single	5UTR	-	SSX6	-
rs12162993	ENST00000356969	chr22	31540167	31540167	+	3	3splicesite	-7.0	A/G	TT	TT->T(T/C)	-4.04,-0.56	single	3UTR	-	-	-
rs12218638	ENST00000317126	chr10	73645599	73645599	+	1	5splicesite	-16.0	C/T	GA	GA->G(G/A)		single	3UTR	-	ASCC1	-
rs12294349	ENST00000382784	chr11	118378	118378	+	2	3splicesite	-12.0	C/T	GG	GG->(G/A)G	10.10,1.35	single	CDS	-	-	-
rs12325516	ENST00000357880	chr16	57341304	57341304	+	2	5splicesite	-18.0	C/T	TG	TG->(C/T)G		single	3UTR	-	-	-
rs12325516	ENST00000357880	chr16	57341304	57341304	+	3	3splicesite	-27.0	C/T	TG	TG->(C/T)G	0.21,0.87	single	3UTR	-	-	-
rs12438174	ENST00000261722	chr15	81145549	81145549	+	11	3splicesite	-15.0	A/T	TT	TT->(T/A)T	9.62,-3.47	single	CDS	-	AP3B2	-
rs12438174	ENST00000261722	chr15	81145549	81145549	+	10	5splicesite	-1.0	A/T	TT	TT->(T/A)T		single	CDS	-	AP3B2	-
rs12459176	ENST00000396436	chr19	57651803	57651803	+	2	5splicesite	-1.0	C/T	GC	GC->G(C/T)		single	5UTR	-	-	-
rs12459176	uc002pzo.1	chr19	57651803	57651803	+	2	5splicesite	-1.0	C/T	GC	GC->G(C/T)		single	3UTR	-	-	-
rs12459176	uc002pzm.1	chr19	57651803	57651803	+	2	5splicesite	-1.0	C/T	GC	GC->G(C/T)		single	3UTR	-	-	-
rs12534308	ENST00000395417	chr7	56604078	56604078	+	2	5splicesite	-7.0	A/G	TG	TG->(T/C)G		single	3UTR	-	-	-
rs12581	ENST00000278373	chr11	32580520	32580520	+	12	3splicesite	-5.0	A/G	TG	TG->T(A/G)	-7.80,11.05	single	CDS	-	EIF3M	-
rs12588295	uc001yrq.1	chr14	105553022	105553022	+	1348	3splicesite	-5.0	C/T	CG	CG->C(G/A)	9.07,1.36	single	3UTR	-	-	-
rs12622896	ENST00000272643	chr2	137746704	137746704	+	10	5splicesite	4.0	C/T	GC	GC->G(C/T)		single	CDS	-	THSD7B	-
rs12622896	uc002tva.1	chr2	137746704	137746704	+	10	5splicesite	4.0	C/T	GC	GC->G(C/T)		single	CDS	-	THSD7B	-
rs12622896	uc002tvb.1	chr2	137746704	137746704	+	9	5splicesite	4.0	C/T	GC	GC->G(C/T)		single	CDS	-	THSD7B	-
rs12673396	uc003upm.1	chr7	98283065	98283065	+	9	3splicesite	-8.0	C/G	AC	AC->A(G/C)		single	5UTR	-	TMEM130	-
rs12737963	ENST00000328530	chr1	153427732	153427732	+	3	3splicesite	-7.0	G/T	CG	CG->(C/A)G	9.50,9.50	single	CDS	PF01390.11	-	-
rs12746956	ENST00000401027	chr1	93084730	93084730	+	5	3splicesite	-1.0	A/G	AT	AT->A(T/C)	5.28,-3.47	single	CDS	-	FAM69A	-
rs12756305	ENST00000332534	chr1	94540636	94540636	+	1	5splicesite	-24.0	C/T	TC	TC->T(C/T)		single	3UTR	-	-	-
rs12756305	ENST00000332534	chr1	94540636	94540636	+	2	3splicesite	-15.0	C/T	TC	TC->T(C/T)	10.75,7.57	single	3UTR	-	-	-
rs1281013	ENST00000377008	chr1	10932266	10932266	-	6	5splicesite	0.0	C/T	GC	GC->G(C/T)		single	CDS	PF04554.4	C1orf127	-
rs1281013	uc001arr.1	chr1	10932266	10932266	-	6	5splicesite	0.0	C/T	GC	GC->G(C/T)		single	CDS	PF04554.4	C1orf127	-
rs12826001	ENST00000366399	chr12	2828304	2828304	+	1	5splicesite	-13.0	A/G	GC	GC->(A/G)C		single	3UTR	-	-	-
rs12826001	ENST00000366399	chr12	2828304	2828304	+	2	3splicesite	-18.0	A/G	CG	CG->C(A/G)	10.70,10.70	single	3UTR	-	-	-
rs1287637	ENST00000378156	chr1	5857749	5857749	-	21	3splicesite	1.0	A/T	TG	TG->(A/T)G	8.92,7.18	single	CDS	-	NPHP4	Nephronophthisis 4|-|OMIM || kidney disease|15776426|GAD || Senior-Loken syndrome 4|-|OMIM || Nephronophthisis 4|blocked|HGMD
rs1287637	uc001alq.1	chr1	5857749	5857749	-	21	3splicesite	1.0	A/T	TG	TG->(A/T)G	0.18,8.93	single	CDS	-	NPHP4	Nephronophthisis 4|-|OMIM || kidney disease|15776426|GAD || Senior-Loken syndrome 4|-|OMIM || Nephronophthisis 4|blocked|HGMD
rs12883084	uc001yrq.1	chr14	105694420	105694420	+	808	5splicesite	-10.0	C/G	CT	CT->(G/C)T		single	3UTR	-	-	-
rs12885001	uc001yrq.1	chr14	105791992	105791992	+	426	3splicesite	-11.0	C/T	GA	GA->(G/A)A	9.42,6.05	single	3UTR	-	-	-
rs12890996	uc001yrq.1	chr14	105601049	105601049	+	1145	5splicesite	-7.0	G/T	AT	AT->(C/A)T		single	3UTR	-	-	-
rs12905274	ENST00000382938	chr15	27234496	27234496	+	7	3splicesite	-20.0	A/G	CG	CG->C(A/G)	9.81,1.06	single	3UTR	-	-	-
rs12950923	uc002fuz.1	chr17	2815685	2815685	+	8	5splicesite	-34.0	C/T	TA	TA->(C/T)A		single	CDS	-	GARNL4	-
rs12984546	uc002met.1	chr19	6377277	6377277	+	8	5splicesite	-25.0	C/T	AG	AG->(G/A)G		single	5UTR	-	SLC25A41	-
rs13180009	ENST00000393929	chr5	162797347	162797347	+	2	3splicesite	-25.0	C/G	GG	GG->(C/G)G	-0.09,8.66	single	5UTR	-	-	-
rs13193229	uc003muu.1	chr6	2968383	2968383	+	1	5splicesite	0.0	A/T	GA	GA->G(T/A)		single	CDS	-	-	-
rs13220071	ENST00000281662	chr6	56606872	56606872	+	27	5splicesite	-25.0	C/T	TA	TA->T(G/A)		single	CDS	-	-	-
rs13232643	ENST00000397185	chr7	156600915	156600915	+	2	5splicesite	-19.0	A/T	AT	AT->(T/A)T		single	CDS	-	-	-
rs13232656	ENST00000316919	chr7	4841340	4841340	+	4	5splicesite	-30.0	A/G	CT	CT->(T/C)T		single	CDS	-	-	-
rs13240848	ENST00000392797	chr7	151285905	151285905	+	2	5splicesite	-3.0	A/G	AT	AT->(A/G)T		single	5UTR	-	GALNTL5	-
rs13240848	ENST00000360643	chr7	151285905	151285905	+	2	5splicesite	-3.0	A/G	AT	AT->(A/G)T		single	5UTR	-	GALNTL5	-
rs13290189	uc003zws.1	chr9	35173423	35173423	+	1	5splicesite	-11.0	G/T	TG	TG->(G/T)G		single	CDS	-	-	-
rs13290752	ENST00000311609	chr9	111109298	111109298	+	1	5splicesite	1.0	A/T	GA	GA->G(T/A)		single	CDS	-	EPB41L4B	-
rs13379202	uc001yrq.1	chr14	105400732	105400732	+	2752	5splicesite	-26.0	C/T	TA	TA->T(G/A)		single	3UTR	-	-	-
rs140524	ENST00000395701	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	-	NCAPH2	-
rs140524	ENST00000361482	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	-	-	-
rs140524	ENST00000380768	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	-	NCAPH2	-
rs140524	ENST00000299821	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	-	-	-
rs140524	uc003blr.1	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	PF06278.2	NCAPH2	-
rs140524	uc003blx.1	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	PF06278.2	NCAPH2	-
rs140524	uc003blv.1	chr22	49307548	49307548	-	14	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	CDS	PF06278.2	NCAPH2	-
rs1446886	ENST00000395396	chr7	63667551	63667551	+	2	3splicesite	-15.0	C/T	GC	GC->(G/A)C	1.71,10.46	single	3UTR	-	-	-
rs1446886	ENST00000395396	chr7	63667551	63667551	+	1	5splicesite	-31.0	C/T	GC	GC->(G/A)C		single	3UTR	-	-	-
rs1465582	uc002nfx.1	chr19	17258501	17258501	+	10	3splicesite	-7.0	G/T	TT	TT->(G/T)T	8.15,-0.60	single	3UTR	-	ANKRD41	-
rs1484862	uc002stk.1	chr2	88943468	88943468	-	157	3splicesite	-27.0	C/T	GC	GC->G(C/T)	7.07,-0.99	single	3UTR	-	-	-
rs1622213	ENST00000360489	chr1	1411020	1411020	+	7	3splicesite	1.0	A/G	GG	GG->(A/G)G	0.44,7.18	single	CDS	-	ATAD3B	-
rs16944028	ENST00000393388	chr16	74826814	74826814	+	1	5splicesite	-15.0	C/G	AG	AG->A(G/C)		single	3UTR	-	-	-
rs16986647	uc002zte.1	chr22	19572645	19572645	+	6	3splicesite	-20.0	A/T	CT	CT->C(A/T)	2.26,10.22	single	3UTR	-	SNAP29	Schizophrenia, association with|blocked|HGMD || CEDNIK syndrome|blocked|HGMD || schizophrenia|11317222|GAD || Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|-|OMIM
rs17027509	ENST00000309632	chr4	152423012	152423012	+	4	5splicesite	-2.0	G/T	TT	TT->T(G/T)		single	CDS	-	-	-
rs17076703	uc001umc.1	chr13	18646181	18646181	-	5	5splicesite	-13.0	A/T	GA	GA->G(A/T)		single	CDS	-	TUBA2	-
rs17155529	ENST00000378461	chr10	14670748	14670748	+	1	5splicesite	-1.0	C/T	AT	AT->(G/A)T		single	3UTR	-	-	-
rs17207481	ENST00000299997	chr19	61698227	61698227	+	3	3splicesite	-1.0	A/G	AA	AA->A(A/G)	2.26,7.43	single	CDS	-	-	-
rs17595598	uc001izv.1	chr10	38778940	38778940	+	1	5splicesite	-23.0	C/G	CT	CT->(C/G)T		single	5UTR	-	-	-
rs17595612	uc001izv.1	chr10	38779049	38779049	+	2	3splicesite	-10.0	C/T	TC	TC->(C/T)C	5.16,-3.59	single	5UTR	-	-	-
rs17635795	ENST00000327578	chr8	17935539	17935539	+	38	3splicesite	-4.0	C/T	AC	AC->A(C/T)	3.35,-0.29	single	CDS	-	PCM1	schizophrenia|16894060|GAD || Thyroid carcinoma, papillary|-|OMIM
rs17683718	ENST00000398649	chr6	55912738	55912738	+	4	5splicesite	-12.0	C/G	CG	CG->C(G/C)		single	3UTR	-	-	-
rs1778540	uc001icn.1	chr1	245486132	245486132	+	1	5splicesite	-20.0	C/T	TA	TA->(C/T)A		single	CDS	-	VN1R5	-
rs17850417	uc002hmw.1	chr17	31937794	31937794	+	15	5splicesite	-16.0	C/G	GC	GC->(G/C)C		single	CDS	PF00063.12	-	-
rs17851231	uc001yrq.1	chr14	105280457	105280457	+	2791	3splicesite	-14.0	A/G	TT	TT->T(T/C)	-2.70,-0.97	single	3UTR	-	-	-
rs17851231	uc001yrq.1	chr14	105280457	105280457	+	2790	5splicesite	-22.0	A/G	TG	TG->(T/C)G		single	3UTR	-	-	-
rs17853732	ENST00000377277	chr5	175650327	175650327	+	1	5splicesite	-27.0	A/C	GC	GC->G(A/C)		single	CDS	-	-	-
rs17853922	ENST00000337164	chr22	19993492	19993492	+	1	5splicesite	-6.0	G/T	GG	GG->G(C/A)		single	CDS	-	-	-
rs17855995	ENST00000224807	chr10	102785416	102785416	+	4	5splicesite	3.0	A/C	GC	GC->G(A/C)		single	CDS	PF03820.8	-	-
rs17855995	ENST00000393459	chr10	102785416	102785416	+	4	5splicesite	3.0	A/C	GC	GC->G(A/C)		single	CDS	PF03820.8	SFXN3	-
rs17855995	uc001ksp.1	chr10	102785416	102785416	+	4	5splicesite	3.0	A/C	GC	GC->G(A/C)		single	CDS	PF03820.8	SFXN3	-
rs17856014	ENST00000003607	chr17	23708521	23708521	+	2	3splicesite	-24.0	G/T	CA	CA->C(C/A)	-9.64,-1.57	single	CDS	PF04379.5	POLDIP2	-
rs17856014	ENST00000003607	chr17	23708521	23708521	+	1	5splicesite	-8.0	G/T	CA	CA->C(C/A)		single	CDS	PF04379.5	POLDIP2	-
rs17856014	uc002haz.1	chr17	23708521	23708521	+	1	5splicesite	-8.0	G/T	CA	CA->C(C/A)		single	CDS	PF04379.5	POLDIP2	-
rs17856436	ENST00000315965	chr7	106088272	106088272	+	1	5splicesite	-24.0	A/G	TC	TC->(T/C)C		single	CDS	-	-	-
rs17856959	uc001kge.1	chr10	91057112	91057112	+	3	3splicesite	-21.0	A/G	GA	GA->G(A/G)	10.24,1.49	single	CDS	-	IFIT2	-
rs1801451	ENST00000399967	chr8	23488259	23488259	+	1	5splicesite	-6.0	C/T	TT	TT->(C/T)T		single	CDS	-	-	-
rs1811100	uc001yrq.1	chr14	105462794	105462794	-	1845	5splicesite	-11.0	C/T	CA	CA->(C/T)A		single	3UTR	-	-	-
rs1815739	uc001oio.1	chr11	66084671	66084671	+	15	5splicesite	-25.0	C/T	TG	TG->(C/T)G		single	CDS	PF00435.12	ACTN3	dystrophinopathy|10797427|GAD || endurance performance|16612741|GAD || endurance, elite|12879365|GAD || endurance performance|17033684|GAD || muscle testing|15718405|GAD || [Sprinting performance]|-|OMIM || aerobic exercise capacity|17560787|GAD || human elite athletic performance|12879365|GAD || muscle testing|15817725|GAD || elite performance|17550918|GAD || muscle strength|17339648|GAD || Alpha actin 3 deficiency, association with|blocked|HGMD || [Alpha-actinin-3 deficiency]|-|OMIM || athletic performance|17468578|GAD
rs182664	ENST00000350490	chr11	63433472	63433472	+	20	3splicesite	-7.0	A/C	AC	AC->(A/C)C	9.81,1.22	single	3UTR	-	MARK2	-
rs182664	ENST00000377809	chr11	63433472	63433472	+	19	3splicesite	-7.0	A/C	AC	AC->(A/C)C	1.80,4.19	single	3UTR	-	-	-
rs182664	ENST00000377810	chr11	63433472	63433472	+	18	3splicesite	-7.0	A/C	AC	AC->(A/C)C	12.94	single	3UTR	-	-	-
rs182664	ENST00000315032	chr11	63433472	63433472	+	19	3splicesite	-7.0	A/C	AC	AC->(A/C)C	11.41,10.17	single	3UTR	-	MARK2	-
rs1852250	uc002stm.1	chr2	89759154	89759154	-	9	3splicesite	-35.0	C/T	TA	TA->T(G/A)	-4.97,7.06	single	3UTR	-	-	-
rs1870354	ENST00000397372	chr19	16124946	16124946	+	2	3splicesite	-16.0	C/T	AC	AC->A(C/T)	2.83,11.58	single	CDS	-	-	-
rs1939749	ENST00000326192	chr11	62667425	62667425	-	1	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs1939749	uc001nwq.1	chr11	62667425	62667425	-	1	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs1973289	ENST00000398872	chr12	18737021	18737021	+	1	5splicesite	-9.0	C/T	CT	CT->(C/T)T		single	3UTR	-	-	-
rs1982537	ENST00000392230	chr19	39955219	39955219	+	2	3splicesite	1.0	C/G	AC	AC->A(G/C)	8.60,-0.00	single	3UTR	-	-	-
rs1982537	uc002nvv.1	chr19	39955219	39955219	+	2	3splicesite	1.0	C/G	AC	AC->A(G/C)	8.22,-0.38	single	3UTR	-	-	-
rs1993829	uc002gzg.1	chr17	22777714	22777714	-	11	5splicesite	1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	-	-
rs2004640	ENST00000357234	chr7	128365537	128365537	+	1	5splicesite	-2.0	G/T	GG	GG->G(G/T)		single	5UTR	-	-	-
rs2004640	ENST00000249375	chr7	128365537	128365537	+	1	5splicesite	-2.0	G/T	GG	GG->G(G/T)		single	5UTR	-	-	-
rs2004640	uc003voi.1	chr7	128365537	128365537	+	1	5splicesite	-2.0	G/T	GG	GG->G(G/T)		single	5UTR	-	IRF5	rheumatoid arthritis|17599733|GAD || lupus erythematosus|16642019|GAD || Systemic lupus erythematosus, assoc. with ?|blocked|HGMD || lupus erythematosus|17166181|GAD || rheumatoid arthritis|17133578|GAD || lupus erythematosus|17568788|GAD || lupus erythematosus|17389033|GAD || diabetes, type 1|17557928|GAD || lupus erythematosus|15657875|GAD || lupus erythematosus|17476532|GAD || {Inflammatory bowel disease 14, susceptibility to}|-|OMIM || lupus erythematosus|17393452|GAD
rs2012826	uc001yrq.1	chr14	105853036	105853036	+	256	3splicesite	-13.0	A/G	CG	CG->(T/C)G	7.78,-0.97	single	3UTR	-	-	-
rs2043336	ENST00000395204	chr19	2866738	2866738	-	3	5splicesite	-4.0	A/T	CT	CT->C(T/A)		single	CDS	-	ZNF57	-
rs2073428	uc002zde.1	chr21	43608028	43608028	+	1	5splicesite	-19.0	G/T	TA	TA->(G/T)A		single	CDS	-	-	-
rs2074071	ENST00000221735	chr19	62695392	62695392	+	4	5splicesite	-2.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs2074071	ENST00000354197	chr19	62695392	62695392	+	3	5splicesite	-2.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs2074071	uc002qov.1	chr19	62695392	62695392	+	4	5splicesite	-2.0	A/G	AT	AT->(A/G)T		single	CDS	-	ZNF419	-
rs213659	ENST00000314015	chr16	1055496	1055496	+	3	3splicesite	-5.0	C/T	AA	AA->(G/A)A	-2.18	single	3UTR	-	-	-
rs213659	ENST00000314015	chr16	1055496	1055496	+	2	5splicesite	-33.0	C/T	AA	AA->(G/A)A		single	3UTR	-	-	-
rs2213898	uc001yrq.1	chr14	105790182	105790182	-	430	5splicesite	-12.0	A/G	AG	AG->A(A/G)		single	3UTR	-	-	-
rs2229638	uc003oex.1	chr6	33756206	33756206	+	32	5splicesite	-20.0	C/T	CC	CC->C(C/T)		single	CDS	-	ITPR3	{Diabetes, type 1, susceptibility to}|-|OMIM || diabetes, type 1|16960798|GAD
rs2248484	ENST00000400014	chr21	29197761	29197761	+	2	3splicesite	-16.0	A/G	CG	CG->(T/C)G	0.71,8.77	single	3UTR	-	-	-
rs2248484	ENST00000400014	chr21	29197761	29197761	+	1	5splicesite	-31.0	A/G	CG	CG->(T/C)G		single	3UTR	-	-	-
rs2261808	ENST00000400583	chr21	14121117	14121117	-	2	5splicesite	-18.0	C/G	CC	CC->C(G/C)		single	3UTR	-	-	-
rs2275190	uc001kbi.1	chr10	81805650	81805650	+	4	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	-	-
rs2275190	uc001kbk.1	chr10	81805650	81805650	+	4	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	-	-
rs2276122	ENST00000339018	chr11	117470740	117470740	+	2	3splicesite	1.0	A/G	AA	AA->A(A/G)	8.35,0.74	single	CDS	-	TMPRSS4	-
rs2276122	ENST00000392895	chr11	117470740	117470740	+	2	3splicesite	1.0	A/G	AA	AA->A(A/G)	13.37	single	CDS	-	-	-
rs2278130	ENST00000326099	chr7	134542501	134542501	+	6	3splicesite	-3.0	A/G	CG	CG->(T/C)G	3.19,11.84	single	CDS	-	WDR91	-
rs2289552	uc001ayx.1	chr1	16763952	16763952	-	19	3splicesite	-30.0	C/T	CG	CG->(C/T)G	0.26,9.01	single	CDS	-	NBPF1	-
rs2289552	uc001ayx.1	chr1	16763952	16763952	-	18	5splicesite	-23.0	C/T	AC	AC->A(C/T)		single	CDS	-	NBPF1	-
rs2294120	uc003zdw.1	chr8	145974371	145974371	-	2	5splicesite	-14.0	C/T	TA	TA->(C/T)A		single	CDS	PF00096.17	ZNF34	-
rs2304683	uc001ovo.1	chr11	74240725	74240725	+	8	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	CDS	-	-	-
rs2305077	ENST00000391976	chr2	241860850	241860850	-	1	5splicesite	-9.0	A/G	GA	GA->(A/G)A		single	3UTR	-	-	-
rs231243	ENST00000301159	chr19	40935653	40935653	+	5	3splicesite	2.0	A/G	GG	GG->(A/G)G	10.61,13.88	single	CDS	-	LIN37	-
rs231518	ENST00000225995	chr17	39316977	39316977	-	4	5splicesite	-5.0	A/G	AT	AT->(A/G)T		single	CDS	PF00625.12	-	-
rs232221	uc002stk.1	chr2	88943047	88943047	-	159	5splicesite	-27.0	G/T	AG	AG->A(G/T)		single	3UTR	-	-	-
rs232222	uc002stk.1	chr2	88942662	88942662	-	167	3splicesite	-49.0	C/T	GT	GT->G(C/T)	7.07,-0.99	single	3UTR	-	-	-
rs2338346	uc001yrq.1	chr14	105652405	105652405	-	958	5splicesite	-13.0	C/T	CT	CT->(C/T)T		single	3UTR	-	-	-
rs2338349	uc001yrq.1	chr14	105651438	105651438	-	961	5splicesite	-5.0	C/T	AT	AT->A(C/T)		single	3UTR	-	-	-
rs2368793	ENST00000355746	chr12	19079	19079	+	2	3splicesite	-1.0	C/T	GG	GG->(G/A)G	1.39,1.90	single	CDS	-	-	-
rs2381409	uc003zyk.1	chr9	35819390	35819390	+	1	5splicesite	-4.0	C/T	GC	GC->G(C/T)		single	5UTR	-	C9orf127	-
rs2404808	ENST00000399855	chr5	2841534	2841534	-	1	5splicesite	-10.0	A/G	GG	GG->G(A/G)		single	3UTR	-	-	-
rs2405876	uc003kgx.1	chr5	79986489	79986489	+	1	5splicesite	-11.0	C/G	GC	GC->(G/C)C		single	CDS	PF00186.10	DHFR	Smith-Lemli-Opitz syndrome|11448909|GAD || Spina bifida, risk, association with|blocked|HGMD || breast cancer|17413111|GAD || neural tube defects|17486595|GAD || Anemia, megaloblastic, due to DHFR deficiency (?)|-|OMIM || colorectal cancer|17449906|GAD || folate homocysteine|16969375|GAD || birth weight; preterm delivery|15755837|GAD
rs241448	uc003ocd.1	chr6	32904663	32904663	-	12	5splicesite	-36.0	C/T	TA	TA->(C/T)A		single	CDS	-	TAP2	Bare lymphocyte syndrome, type I, due to TAP2 deficiency|-|OMIM || Graves' disease|16721835|GAD || diabetes, type 1|7911550|GAD || cystic fibrosis|12026214|GAD || ankylosing spondylitis|11096258|GAD || bronchiectasis|17245734|GAD || tuberculosis|16634865|GAD || liver disease|11494532|GAD || glaucoma, primary open-angle|15887980|GAD || diabetes, type 1|9226129|GAD || lupus erythematosus|12634240|GAD || diabetes, type 1|12786999|GAD || multiple sclerosis; IgA nephropathy|11775239|GAD || dermatitis, atopic|11737038|GAD || lupus erythematosus|16216677|GAD || HIV|12717621|GAD || juvenile arthritis|15343265|GAD || rheumatoid arthritis|8162639|GAD || hepatitis C, chronic|15548263|GAD || diabetes, type 1|8157258|GAD || multiple sclerosis|7929801|GAD || diabetes, type 1|11916171|GAD || esophageal cancer|15774487|GAD || interferon response|12225333|GAD || psoriasis|12648225|GAD || HLA class I deficiency|blocked|HGMD || echinococcosis|12648282|GAD || diabetes, type 1|17491658|GAD || urinary calculus|16215317|GAD || rheumatoid arthritis|14749980|GAD || lupus erythematosus|12729048|GAD || inflammatory urogenital disease|10626334|GAD || hepatitis C, chronic|16886895|GAD || sclerosis, systemic|16112028|GAD || pemphigus|16690408|GAD || Graves' disease|12485523|GAD || Sjögren's syndrome|9324024|GAD || hepatitis C|10220507|GAD || Lupus|12729048|GAD || HIV|15385740|GAD || allergic rhinitis|16923719|GAD || Rheumatoid arthritis, association with|blocked|HGMD || Sjögren's syndrome, association with|blocked|HGMD || arthritis|12047361|GAD || juvenile arthritis|12195624|GAD || Behcet's Disease|12911283|GAD || diabetes, type 1|15336779|GAD || diabetes, type 1|12507827|GAD || arthritis|11229461|GAD || systemic lupus erythematosus|9014588|GAD || schizophrenia|15318034|GAD || familial bronchiectasis.|8523185|GAD || Alzheimer's disease|16595160|GAD || preeclampsia|16191421|GAD || systemic lupus erythematosus|8311559|GAD || psoriasis|17581627|GAD || rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders|12687213|GAD || diabetes, type 1|17192492|GAD || juvenile arthritis|11294565|GAD || measles|12786997|GAD || dermatitis, atopic|11960305|GAD || hepatitis B|17525827|GAD || rhinitis|12018331|GAD || Wegener-like granulomatosis|-|OMIM
rs2449725	ENST00000297369	chr7	152114454	152114454	+	1	5splicesite	-10.0	C/T	CT	CT->C(C/T)		single	CDS	-	-	-
rs2516747	uc001yrq.1	chr14	105215729	105215729	-	2801	5splicesite	-6.0	A/G	GA	GA->(A/G)A		single	3UTR	-	-	-
rs2516975	uc001yrq.1	chr14	105425138	105425138	-	2369	3splicesite	-7.0	A/G	GG	GG->(A/G)G	7.78,10.64	single	3UTR	-	-	-
rs252174	ENST00000393064	chr12	95819012	95819012	-	6	5splicesite	-16.0	A/C	CC	CC->(A/C)C		single	3UTR	-	-	-
rs2549095	ENST00000339928	chr16	68545860	68545860	+	4	5splicesite	-26.0	A/G	AC	AC->(A/G)C		single	CDS	PF00188.17	-	-
rs2549095	ENST00000339928	chr16	68545860	68545860	+	5	3splicesite	-17.0	A/G	AC	AC->(A/G)C	1.17,-0.35	single	CDS	PF00188.17	-	-
rs2582505	ENST00000398306	chr14	104480419	104480419	-	23	5splicesite	-24.0	C/G	CA	CA->(C/G)A		single	CDS	-	-	-
rs2586529	uc002fzm.1	chr17	4777951	4777951	+	3	3splicesite	-5.0	A/G	CG	CG->C(A/G)	-0.42,8.33	single	CDS	-	GP1BA	recurrent coronary event|17303802|GAD || thrombocytopenia|12724616|GAD || cerebrovascular disease; sickle cell anemia|12871600|GAD || myocardial infarction|10755818|GAD || lymphoproliferative disorders; blood transfusion complications|14675395|GAD || coronary disease|12082590|GAD || myocardial infarction|11751671|GAD || coronary heart disease|11975906|GAD || age at first coronary bypass operation|14639140|GAD || Bernard-Soulier Syndrome|2308962|GAD || heart disease, ischemic; peripheral arterial disease|15386532|GAD || heart disease, ischemic|17105818|GAD || myocardial infarction|12073410|GAD || coronary artery stent thrombosis|17346829|GAD || transient ischemic attacks|17029210|GAD || atherosclerosis, generalized|15355504|GAD || VWF binding, association with|blocked|HGMD || Bernard-Soulier Syndrome|11776304|GAD || Bernard-Soulier Syndrome|7819107|GAD || myocardial infarct|17261793|GAD || stroke, ischemic|16118501|GAD || von Willebrand disease, platelet-type|-|OMIM || heart disease, ischemic|15564935|GAD || thrombus formation, arterial|11698306|GAD || myocardial infarct|17143557|GAD || brain hemorrhage|12499711|GAD || stroke|11418460|GAD || heart disease, ischemic; myocardial infarction; sudden cardiac death|15978109|GAD || Macrothrombocytopaenia|blocked|HGMD || lymphoproliferative disorders|15166939|GAD || hyperactive surface receptor|8384898|GAD || myocardial infarction; sudden cardiac death|11514372|GAD || Bernard-Soulier syndrome, type A|-|OMIM || bleeding complications|15892865|GAD || cerebrovascular disease, ischemic|14968555|GAD || cerebrovascular disease|14968555|GAD || myocardial infarct|15269835|GAD || thrombocytopenia|15477207|GAD || heart disease, ischemic|11994555|GAD || Pseudo-von Willebrand disease|blocked|HGMD || angina|15346842|GAD || Bernard-Soulier syndrome|blocked|HGMD || coronary artery disease|11167769|GAD || stroke, ischemic|15546585|GAD || breast cancer|12908817|GAD || atherosclerosis, coronary myocardial infarct|17619827|GAD || stroke|17196570|GAD || stroke|11260063|GAD || Resistance in vitro to low-dose aspirin|13678940|GAD || Myocardial infarction, association with|blocked|HGMD || {Nonarteritic anterior ischemic optic neuropathy, susceptibility to}|-|OMIM || platelet aggregation|16986133|GAD
rs2593776	ENST00000306412	chr2	176673525	176673525	+	2	5splicesite	-10.0	C/G	GG	GG->G(C/G)		single	CDS	-	HOXD12	talipes equinovarus|16331564|GAD
rs2593776	uc002ukg.1	chr2	176673525	176673525	+	2	5splicesite	-10.0	C/G	GG	GG->G(C/G)		single	CDS	-	HOXD12	talipes equinovarus|16331564|GAD
rs2596698	ENST00000335387	chr9	124677469	124677469	-	10	3splicesite	0.0	A/G	AA	AA->A(A/G)	0.96,7.58	single	CDS	-	-	-
rs2623875	uc003bwl.1	chr3	12021168	12021168	+	1	5splicesite	-30.0	A/C	TA	TA->T(A/C)		single	CDS	-	SYN2	schizophrenia|15271586|GAD || {Schizophrenia, susceptibility to}|-|OMIM || schizophrenia|16131404|GAD
rs2623875	uc003bwm.1	chr3	12021168	12021168	+	1	5splicesite	-30.0	A/C	TA	TA->T(A/C)		single	CDS	-	SYN2	schizophrenia|15271586|GAD || {Schizophrenia, susceptibility to}|-|OMIM || schizophrenia|16131404|GAD
rs2668689	ENST00000393492	chr17	41019244	41019244	+	2	5splicesite	-19.0	C/T	TG	TG->(C/T)G		single	3UTR	-	-	-
rs2668689	ENST00000393492	chr17	41019244	41019244	+	3	3splicesite	-13.0	C/T	TG	TG->(C/T)G	-0.99,7.07	single	3UTR	-	-	-
rs2705132	ENST00000314014	chr12	47175030	47175030	+	7	5splicesite	-3.0	A/G	AT	AT->(A/G)T		single	3UTR	-	C12orf54	-
rs2705132	uc001rrr.1	chr12	47175030	47175030	+	7	5splicesite	-3.0	A/G	AT	AT->(A/G)T		single	3UTR	-	C12orf54	-
rs2709437	uc002qyl.1	chr2	6040943	6040943	+	2	5splicesite	-11.0	C/T	TA	TA->(C/T)A		single	CDS	-	-	-
rs2731150	uc001yrq.1	chr14	106120470	106120470	-	79	3splicesite	-10.0	A/G	AA	AA->A(A/G)	2.59,0.49	single	3UTR	-	-	-
rs276936	ENST00000360428	chr18	26865137	26865137	-	3	3splicesite	-3.0	G/T	AT	AT->A(G/T)	0.04,8.41	single	CDS	-	DSC3	Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM
rs276936	ENST00000356582	chr18	26865137	26865137	-	3	3splicesite	-3.0	G/T	AT	AT->A(G/T)	-1.86,12.17	single	CDS	-	DSC3	Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM
rs276936	ENST00000389543	chr18	26865137	26865137	-	3	3splicesite	-3.0	G/T	AT	AT->A(G/T)	13.32	single	CDS	-	DSC3	Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM
rs276936	uc002kwi.1	chr18	26865137	26865137	-	3	3splicesite	-3.0	G/T	AT	AT->A(G/T)	5.28,-3.47	single	CDS	-	DSC3	Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM
rs276936	uc002kwj.1	chr18	26865137	26865137	-	3	3splicesite	-3.0	G/T	AT	AT->A(G/T)	5.28,-3.47	single	CDS	-	DSC3	Arrhythmogenic right ventricular dysplasia, familial, 11|-|OMIM
rs2794062	uc001eml.1	chr1	143815304	143815304	-	2	5splicesite	-9.0	A/G	TA	TA->(T/C)A		single	CDS	-	SEC22B	-
rs283413	uc003huu.1	chr4	100487213	100487213	-	3	5splicesite	-29.0	G/T	TG	TG->(G/T)G		single	CDS	PF00107.17	ADH1C	alcohol elimination|14745297|GAD || Alcoholism, increased risk, association with ?|blocked|HGMD || cleft lip with cleft palate cleft lip without cleft palate cleft palate|16415175|GAD || drug dependence|17185388|GAD || aerodigestive tract cancers|14732773|GAD || diabetes, type 2|17563066|GAD || cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic|16287084|GAD || alcoholism|15318112|GAD || heart muscle disease, alcoholic|11696658|GAD || medicamentosa-like dermatitis, trichloroethylene|16758956|GAD || alcohol consumption blood pressure, arterial cholesterol, HDL heart disease, ischemic|17379229|GAD || alcohol dependency|12884000|GAD || colorectal cancer|17449906|GAD || colorectal cancer|12750236|GAD || liver cancer|16132793|GAD || alcohol dependence|16685648|GAD || alcohol abuse cirrhosis, alcoholic pancreatitis, chronic|17454860|GAD || head and neck cancer|15767341|GAD || Parkinson disease, association with|blocked|HGMD || breast cancer|17295732|GAD || skin cancer; squamous cell carcinoma|11303599|GAD || breast cancer|16344274|GAD || alcohol abuse|15370874|GAD || breast cancer|17268812|GAD || Stroke|14726542|GAD || alcohol abuse|12884000|GAD || breast cancer|11045794|GAD || head and neck cancer|11981277|GAD || Parkinson's disease|15642852|GAD || alcoholism|15863807|GAD || colorectal cancer|16039674|GAD || head and neck cancer|12376487|GAD || |14634838|GAD || alcohol abuse|17134660|GAD || colorectal cancer|17517051|GAD || alcohol abuse|12766633|GAD || cirrhosis; pancreatitis|15220553|GAD || cirrhosis, alcoholic|11748356|GAD || alcohol abuse|12517056|GAD || cholesterol, HDL; lipoprotein|12658118|GAD || cirrhosis; pancreatitis; esophageal cancer|11051375|GAD || lipoprotein|16051248|GAD || bladder cancer|11752857|GAD || esophageal cancer|15327835|GAD || alcoholism and alcoholic liver disease|15519646|GAD || hypopharyngeal cancer; laryngeal cancer; oral cancer; oropharynx cancer|14732773|GAD || breast cancer|17018785|GAD || {Parkinson disease, susceptibility to}|-|OMIM || alcohol abuse; smoking behavior|15654505|GAD
rs28378190	ENST00000340920	chr7	585017	585017	-	10	3splicesite	-4.0	C/G	AC	AC->A(C/G)	-11.41,-2.66	single	CDS	-	PRKAR1B	-
rs2838010	ENST00000398646	chr21	41616503	41616503	+	1	5splicesite	1.0	A/T	GA	GA->G(A/T)		single	CDS	-	-	-
rs2838010	ENST00000337056	chr21	41616503	41616503	+	2	5splicesite	1.0	A/T	GA	GA->G(A/T)		single	CDS	-	-	-
rs28384078	uc003ldk.1	chr5	138235657	138235657	+	2	5splicesite	-17.0	C/T	GC	GC->(G/A)C		single	5UTR	-	LRRTM2	-
rs28387178	ENST00000393068	chr2	127156064	127156064	+	1	5splicesite	3.0	C/G	GG	GG->(C/G)G		single	CDS	-	-	-
rs28400887	uc003nph.1	chr6	30183882	30183882	+	5	3splicesite	1.0	C/T	GG	GG->(G/A)G	0.12,-2.86	single	CDS	PF02891.11,PF00097.16	TRIM31	-
rs2842899	uc003qdh.1	chr6	132901302	132901302	-	1	5splicesite	-30.0	A/T	TA	TA->(T/A)A		single	CDS	PF00001.12	TAAR9	TRAR3 null allele|blocked|HGMD
rs28488177	uc001yrq.1	chr14	105430782	105430782	+	2284	3splicesite	-6.0	C/T	CG	CG->C(G/A)	8.55,10.64	single	3UTR	-	-	-
rs2850766	uc002liw.1	chr18	59149547	59149547	+	10	5splicesite	-24.0	C/G	CT	CT->(G/C)T		single	5UTR	-	FVT1	Lymphoma/leukemia, B-cell, variant|-|OMIM || pregnancy loss, recurrent|16711541|GAD
rs2854761	uc001yrq.1	chr14	105448581	105448581	-	2022	3splicesite	-1.0	A/C	AA	AA->(A/C)A	2.59,0.49	single	3UTR	-	-	-
rs2857335	uc001yrq.1	chr14	105455652	105455652	-	1922	3splicesite	-13.0	C/T	CT	CT->C(C/T)	8.55,10.64	single	3UTR	-	-	-
rs2857344	uc001yrq.1	chr14	105449876	105449876	-	2006	3splicesite	-3.0	A/G	CG	CG->C(A/G)	0.49	single	3UTR	-	-	-
rs2857344	uc001yrq.1	chr14	105449876	105449876	-	2005	5splicesite	-10.0	A/G	GC	GC->(A/G)C		single	3UTR	-	-	-
rs2857360	uc001yrq.1	chr14	105432457	105432457	-	2249	3splicesite	-2.0	C/G	TG	TG->T(C/G)	8.55,10.64	single	3UTR	-	-	-
rs2857375	uc001yrq.1	chr14	105408515	105408515	-	2560	5splicesite	-26.0	A/G	TA	TA->T(A/G)		single	3UTR	-	-	-
rs28575804	ENST00000359915	chr4	70291919	70291919	+	1	5splicesite	0.0	A/G	AT	AT->(A/G)T		single	CDS	-	-	-
rs28602483	ENST00000333351	chr3	1612815	1612815	+	1	5splicesite	-8.0	C/T	GA	GA->(G/A)A		single	3UTR	-	-	-
rs2862716	uc003lwj.1	chr5	156412150	156412150	+	5	3splicesite	-9.0	A/G	TG	TG->(T/C)G	11.40,5.14	single	CDS	PF01688.8	HAVCR1	{Atopy, resistance to}|-|OMIM || Allergic diseases, sucept., association with ?|blocked|HGMD || dermatitis and eczema|16940744|GAD || asthma|17117951|GAD || asthma|17570927|GAD || atopic asthma|12618867|GAD || asthma|15867855|GAD
rs28633116	ENST00000366180	chr5	175903982	175903982	+	1	5splicesite	-26.0	C/T	CT	CT->(C/T)T		single	3UTR	-	-	-
rs28633116	ENST00000366180	chr5	175903982	175903982	+	2	3splicesite	-5.0	C/T	CC	CC->C(C/T)	2.58,6.88	single	3UTR	-	-	-
rs28673406	uc001yrq.1	chr14	105931629	105931629	+	174	5splicesite	-24.0	G/T	CC	CC->C(C/A)		single	3UTR	-	-	-
rs28688207	ENST00000374943	chr6	32736638	32736638	+	5	3splicesite	1.0	C/T	AA	AA->A(G/A)	10.21	single	CDS	-	-	-
rs28688207	ENST00000399074	chr6	32736638	32736638	+	5	3splicesite	1.0	C/T	AA	AA->A(G/A)	9.14	single	CDS	-	-	-
rs28688207	ENST00000334399	chr6	32736638	32736638	+	5	3splicesite	1.0	C/T	AA	AA->A(G/A)	0.38,11.68	single	CDS	-	-	-
rs28688450	ENST00000380981	chr22	47674481	47674481	+	3	3splicesite	1.0	A/G	AA	AA->A(A/G)	7.80	single	5UTR	-	-	-
rs28720026	uc001mob.1	chr11	18247456	18247456	+	3	5splicesite	-35.0	C/G	AC	AC->A(C/G)		single	CDS	PF00277.9	SAA1	Familial Mediterranean Fever|12687559|GAD || AA amyloidosis, association with|blocked|HGMD || amyloidosis; Familial Mediterranean Fever|16152805|GAD || amyloidosis|17039310|GAD || rheumatoid arthritis|11407685|GAD || amyloidosis; Familial Mediterranean Fever|15170927|GAD || amyloidosis|14696796|GAD || amyloidosis|16219644|GAD || amyloidosis|12762135|GAD || hypertension|11592044|GAD || amyloidosis; Familial Mediterranean Fever|15018633|GAD || Familial Mediterranean Fever|16118480|GAD || amyloidosis|16011988|GAD || Serum amyloid variant|blocked|HGMD
rs28720026	uc001moc.1	chr11	18247456	18247456	+	3	5splicesite	-35.0	C/G	AC	AC->A(C/G)		single	CDS	PF00277.9	SAA1	Familial Mediterranean Fever|12687559|GAD || AA amyloidosis, association with|blocked|HGMD || amyloidosis; Familial Mediterranean Fever|16152805|GAD || amyloidosis|17039310|GAD || rheumatoid arthritis|11407685|GAD || amyloidosis; Familial Mediterranean Fever|15170927|GAD || amyloidosis|14696796|GAD || amyloidosis|16219644|GAD || amyloidosis|12762135|GAD || hypertension|11592044|GAD || amyloidosis; Familial Mediterranean Fever|15018633|GAD || Familial Mediterranean Fever|16118480|GAD || amyloidosis|16011988|GAD || Serum amyloid variant|blocked|HGMD
rs2884015	ENST00000280305	chr19	49470637	49470637	+	2	5splicesite	-10.0	A/T	TT	TT->(A/T)T		single	CDS	PF00096.17	ZNF233	-
rs2884016	ENST00000280305	chr19	49470639	49470639	+	3	3splicesite	-30.0	A/G	GT	GT->(A/G)T	2.41,8.45	single	CDS	PF00096.17	ZNF233	-
rs28928897	ENST00000340966	chr17	37034007	37034007	-	1	5splicesite	-15.0	A/C/G	GC	GC->(A/C/G)C		single	CDS	-	-	-
rs2901166	ENST00000369156	chr10	120503948	120503948	+	2	3splicesite	-27.0	C/G	CC	CC->(G/C)C	7.87,6.67	single	3UTR	-	-	-
rs2930230	ENST00000316859	chr16	83874666	83874666	-	1	5splicesite	3.0	A/G	GC	GC->G(T/C)		single	3UTR	-	TMEM148	-
rs2942857	ENST00000265403	chr4	69722576	69722576	+	3	3splicesite	5.0	A/C	CG	CG->(A/C)G	7.53,6.44	single	CDS	-	UGT2B10	-
rs2942857	uc003hee.1	chr4	69722576	69722576	+	3	3splicesite	5.0	A/C	CG	CG->(A/C)G	-0.30,8.45	single	CDS	PF00201.9	UGT2B10	-
rs2969356	uc002ula.1	chr2	177210984	177210984	-	1	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	-	-
rs304725	uc002owx.1	chr19	48790803	48790803	+	1	5splicesite	-13.0	C/G	GA	GA->(G/C)A		single	CDS	-	IRGQ	-
rs3125001	ENST00000371700	chr9	138525082	138525082	+	17	3splicesite	-3.0	C/T	CG	CG->C(G/A)	1.27,9.87	single	CDS	PF07684.3	-	-
rs3208833	uc004aij.1	chr9	73488311	73488311	-	24	5splicesite	-8.0	A/T	TT	TT->(A/T)T		single	5UTR	-	TMEM2	-
rs3208834	uc004aij.1	chr9	73488310	73488310	-	24	5splicesite	-8.0	A/T	TT	TT->T(A/T)		single	5UTR	-	TMEM2	-
rs3211442	ENST00000311505	chr16	27151864	27151864	-	6	3splicesite	-44.0	C/G	GC	GC->G(C/G)	5.14,11.65	single	CDS	-	NSMCE1	-
rs34019594	uc001yrq.1	chr14	105762702	105762702	+	530	5splicesite	-37.0	C/T	AG	AG->(G/A)G		single	3UTR	-	-	-
rs34117018	ENST00000299997	chr19	61698226	61698226	+	3	3splicesite	-1.0	A/G	AA	AA->(A/G)A	2.26,7.43	single	CDS	-	-	-
rs34152452	ENST00000400027	chr4	9095010	9095010	+	2	3splicesite	-4.0	A/C	AC	AC->A(A/C)	8.77,0.41	single	3UTR	-	-	-
rs34153015	ENST00000354301	chr11	76429235	76429235	+	4	3splicesite	-31.0	A/G	GC	GC->(A/G)C	7.87,-1.23	single	CDS	-	B3GNT6	-
rs34153015	uc001oxw.1	chr11	76429235	76429235	+	4	3splicesite	-14.0	A/G	GG	GG->G(A/G)	13.37	single	CDS	-	B3GNT6	-
rs34270096	ENST00000398770	chr7	56561047	56561047	+	1	5splicesite	0.0	C/T	GA	GA->(G/A)A		single	CDS	-	-	-
rs34398803	uc001yrq.1	chr14	105447923	105447923	+	2030	5splicesite	-18.0	A/T	CA	CA->C(T/A)		single	3UTR	-	-	-
rs34894886	uc001yrq.1	chr14	105492774	105492774	+	1649	3splicesite	-18.0	C/T	CA	CA->C(G/A)	2.59,2.11	single	3UTR	-	-	-
rs34970372	uc001yrq.1	chr14	105466725	105466725	+	1811	3splicesite	-29.0	C/G	CC	CC->(G/C)C	10.86,2.11	single	3UTR	-	-	-
rs34970372	uc001yrq.1	chr14	105466725	105466725	+	1810	5splicesite	-11.0	C/G	CC	CC->(G/C)C		single	3UTR	-	-	-
rs35012773	ENST00000400177	chr18	3252784	3252784	+	1	5splicesite	-10.0	C/T	GC	GC->G(C/T)		single	5UTR	-	-	-
rs35023711	ENST00000393967	chr11	66286244	66286244	+	2	3splicesite	-20.0	A/C	GT	GT->(T/G)T	8.41,-0.34	single	3UTR	-	-	-
rs35031964	ENST00000393472	chr17	41693537	41693537	+	3	3splicesite	-13.0	A/G	TG	TG->(T/C)G	11.13,2.37	single	3UTR	-	-	-
rs35031964	ENST00000393472	chr17	41693537	41693537	+	2	5splicesite	-19.0	A/G	TG	TG->(T/C)G		single	3UTR	-	-	-
rs35083199	ENST00000262436	chr17	57495242	57495242	+	2	5splicesite	-32.0	C/T	AG	AG->A(G/A)		single	CDS	-	MED13	-
rs35188041	ENST00000375674	chr11	107514870	107514870	+	5	5splicesite	-11.0	A/C	CA	CA->(A/C)A		single	CDS	-	-	-
rs351988	ENST00000300947	chr19	766086	766086	+	5	3splicesite	-9.0	A/G	TG	TG->(T/C)G	6.81,-0.44	single	CDS	-	-	-
rs35277306	ENST00000366091	chr1	168257730	168257730	+	2	3splicesite	-10.0	A/T	AA	AA->A(T/A)	3.27	single	3UTR	-	-	-
rs35290911	ENST00000361594	chr14	22958892	22958892	+	26	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	CDS	PF00063.12	MYH7	cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD
rs35290911	ENST00000355349	chr14	22958892	22958892	+	27	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	CDS	PF00063.12	-	-
rs35290911	ENST00000397183	chr14	22958892	22958892	+	27	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	CDS	PF00063.12	-	-
rs35290911	uc001wjx.1	chr14	22958892	22958892	+	27	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	CDS	PF00063.12	MYH7	cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD
rs35290911	uc001wjw.1	chr14	22958892	22958892	+	26	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	CDS	PF00063.12	MYH7	cardiomyopathy|15856146|GAD || cardiomyopathy|15769782|GAD || cardiomyopathy|16199542|GAD || pronounced septal hypertrophy|11214007|GAD || cardiomyopathy|15563892|GAD || Cardiomyopathy, dilated|blocked|HGMD || Cardiomyopathy, dilated, 1S|-|OMIM || Myosin storage myopathy|blocked|HGMD || Myopathy, Laing distal|-|OMIM || cardiomyopathy|16087648|GAD || Cardiomyopathy, familial hypertrophic, 1|-|OMIM || Hyaline body myopathy|blocked|HGMD || Cardiomyopathy, hypertrophic ?|blocked|HGMD || Scapuloperoneal syndrome, myopathic type|-|OMIM || cardiomyopathy|15940186|GAD || cardiomyopathy|12084606|GAD || Cardiomyopathy, hypertrophic|blocked|HGMD || Myopathy, distal 1|blocked|HGMD || left ventricular wall thickness|16754800|GAD || cardiomyopathy|12473556|GAD || hypertrophic cardiomyopathy|12081993|GAD || cardiomyopathy|12820698|GAD || Myopathy, myosin storage|-|OMIM || cardiomyopathy|15858117|GAD
rs35379048	ENST00000397483	chr6	7530489	7530489	+	2	3splicesite	-7.0	A/G	CG	CG->C(A/G)	6.04,-2.56	single	CDS	-	-	-
rs35453127	ENST00000392215	chr2	207259747	207259747	+	5	3splicesite	-33.0	C/G	GC	GC->(G/C)C	1.16,9.91	single	3UTR	-	-	-
rs35620026	ENST00000366336	chr7	12497693	12497693	+	1	5splicesite	-14.0	C/T	CG	CG->(C/T)G		single	3UTR	-	-	-
rs35620026	ENST00000366336	chr7	12497693	12497693	+	2	3splicesite	-19.0	C/T	TC	TC->T(C/T)	2.91,11.66	single	3UTR	-	-	-
rs35657735	ENST00000398903	chr8	144225143	144225143	+	4	5splicesite	0.0	C/T	GA	GA->G(G/A)		single	CDS	-	-	-
rs35734837	uc001yrq.1	chr14	105543585	105543585	+	1380	3splicesite	-19.0	A/G	GC	GC->G(T/C)	10.86,6.01	single	3UTR	-	-	-
rs358231	uc003gqp.1	chr4	22429602	22429602	-	6	3splicesite	-16.0	A/T	AA	AA->A(T/A)	9.81	single	CDS	PF00232.9	GBA3	Cytosolic beta-glucosidase deficiency, association|blocked|HGMD
rs35849660	ENST00000380256	chr11	5226206	5226206	-	4	3splicesite	-36.0	A/G	GT	GT->(A/G)T	-1.21,12.16	single	CDS	PF00042.13	-	-
rs35916805	uc001yrq.1	chr14	105800611	105800611	+	383	3splicesite	-16.0	C/T	GC	GC->(G/A)C	-2.05,12.21	single	3UTR	-	-	-
rs35944133	ENST00000294213	chr3	52430761	52430761	+	10	3splicesite	-11.0	A/G	AA	AA->(A/G)A	0.75,10.86	single	CDS	-	PHF7	-
rs35958560	ENST00000242050	chr7	27171494	27171494	-	3	5splicesite	-5.0	C/G	GC	GC->G(C/G)		single	CDS	PF00046.20	-	-
rs36168171	ENST00000395298	chr14	55534721	55534721	+	1	5splicesite	-15.0	A/G	CT	CT->(T/C)T		single	3UTR	-	-	-
rs3667	ENST00000395364	chr6	32718912	32718912	+	5	3splicesite	3.0	A/G	AA	AA->A(A/G)	10.46	single	3UTR	-	-	-
rs3745936	ENST00000187608	chr19	46784655	46784655	-	7	3splicesite	4.0	A/T	TG	TG->(T/A)G	4.35	single	3UTR	-	CEACAM21	-
rs3745936	uc002org.1	chr19	46784655	46784655	-	7	3splicesite	4.0	A/T	TG	TG->(T/A)G	13.32,4.72	single	3UTR	-	CEACAM21	-
rs3752944	uc001yrq.1	chr14	105401162	105401162	+	2741	3splicesite	-27.0	A/G	CG	CG->(T/C)G	12.21	single	3UTR	-	-	-
rs3752945	uc001yrq.1	chr14	105401171	105401171	+	2740	5splicesite	-23.0	A/C	CG	CG->C(T/G)		single	3UTR	-	-	-
rs3765605	ENST00000383614	chr6	30083973	30083973	-	2	5splicesite	-22.0	G/T	CC	CC->C(C/A)		single	CDS	-	-	-
rs3794461	uc001yrq.1	chr14	105429148	105429148	+	2307	3splicesite	-33.0	A/G	CT	CT->C(T/C)	4.17,2.00	single	3UTR	-	-	-
rs3794713	ENST00000317267	chr17	78154905	78154905	-	1	5splicesite	-23.0	A/G	GG	GG->(A/G)G		single	3UTR	-	-	-
rs3795543	ENST00000370482	chr1	89252346	89252346	-	5	5splicesite	-5.0	A/G	AG	AG->(A/G)G		single	CDS	PF02841.5	GBP3	-
rs3828800	ENST00000399064	chr6	32744041	32744041	+	1	5splicesite	0.0	A/G	GC	GC->(A/G)C		single	CDS	-	-	-
rs3863209	uc003nog.1	chr6	30003907	30003907	+	3	5splicesite	1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	-	-
rs3886875	ENST00000394916	chr3	52429302	52429302	-	1	5splicesite	-2.0	A/C	AT	AT->A(T/G)		single	CDS	-	-	-
rs3920038	ENST00000395707	chr14	51605398	51605398	-	2	3splicesite	-6.0	A/C	CG	CG->(A/C)G	10.98,2.23	single	CDS	-	-	-
rs393658	ENST00000366304	chr22	19690566	19690566	+	1	5splicesite	-9.0	A/C	TT	TT->T(T/G)		single	CDS	-	-	-
rs3964827	uc001yrq.1	chr14	105636597	105636597	-	1012	3splicesite	-34.0	G/T	TT	TT->T(G/T)	10.75,3.13	single	3UTR	-	-	-
rs4050110	ENST00000354486	chr22	21319566	21319566	-	3	5splicesite	0.0	C/T	AT	AT->(G/A)T		single	CDS	-	GGTL4	-
rs4050110	uc002zwq.1	chr22	21319566	21319566	-	3	5splicesite	0.0	C/T	AT	AT->(G/A)T		single	CDS	PF01019.12	GGTL4	-
rs4066728	ENST00000317103	chrX	8099147	8099147	-	1	5splicesite	0.0	A/G	AT	AT->(A/G)T		single	3UTR	-	VCX2	-
rs4066728	uc004csb.1	chrX	8099147	8099147	-	1	5splicesite	0.0	A/G	AT	AT->(A/G)T		single	3UTR	-	VCX2	-
rs4075012	ENST00000331814	chr3	46760359	46760359	+	8	5splicesite	1.0	C/T	AT	AT->(G/A)T		single	CDS	-	-	-
rs4075012	uc003cqh.1	chr3	46760359	46760359	+	2	5splicesite	-29.0	C/T	GA	GA->G(G/A)		single	CDS	PF00089.17	TESSP5	-
rs4098492	ENST00000394739	chr9	114164993	114164993	-	2	3splicesite	-21.0	C/T	GA	GA->G(G/A)	8.77,0.41	single	3UTR	-	-	-
rs4107078	ENST00000399720	chr4	49254553	49254553	-	6	5splicesite	-18.0	A/G	AT	AT->A(T/C)		single	CDS	-	-	-
rs41282202	ENST00000396296	chr10	27440824	27440824	+	21	3splicesite	-1.0	C/T	AT	AT->(G/A)T	8.70	single	CDS	-	-	-
rs430178	uc001gav.1	chr1	159836043	159836043	-	8	3splicesite	1.0	C/G	AC	AC->A(G/C)	0.47,-8.13	single	CDS	-	FCGR2C	Thrombocytopenic purpura, autoimmune|-|OMIM
rs4346114	uc001yrq.1	chr14	105990332	105990332	+	140	3splicesite	-17.0	G/T	CT	CT->(C/A)T	11.88,3.13	single	3UTR	-	-	-
rs4479754	uc003ihj.1	chr4	139319822	139319822	+	11	5splicesite	-29.0	C/T	GG	GG->(G/A)G		single	CDS	-	SLC7A11	-
rs4525095	ENST00000342960	chr1	144004631	144004631	-	1	5splicesite	2.0	A/C	TT	TT->(T/G)T		single	5UTR	-	-	-
rs4525095	ENST00000369335	chr1	144004631	144004631	-	1	5splicesite	2.0	A/C	TT	TT->(T/G)T		single	5UTR	-	-	-
rs4525095	ENST00000369364	chr1	144004631	144004631	-	1	5splicesite	2.0	A/C	TT	TT->(T/G)T		single	5UTR	-	NBPF10	-
rs453637	ENST00000343883	chr5	849296	849296	-	2	5splicesite	-2.0	A/G	GG	GG->G(A/G)		single	CDS	-	-	-
rs45610836	uc001yrq.1	chr14	105463333	105463333	+	1839	5splicesite	-21.0	C/T	GG	GG->(G/A)G		single	3UTR	-	-	-
rs459353	uc002zvw.1	chr22	21324991	21324991	-	93	3splicesite	-12.0	A/G	TC	TC->T(T/C)	1.25,9.31	single	3UTR	-	-	-
rs4604805	uc001krd.1	chr10	102251399	102251399	+	10	5splicesite	3.0	C/G	GC	GC->G(G/C)		single	3UTR	-	SEC31L2	-
rs4648562	ENST00000378411	chr1	2525473	2525473	+	6	3splicesite	-26.0	A/C	GC	GC->(T/G)C	9.39,7.76	single	CDS	-	MMEL1	-
rs4732519	uc003ued.1	chr7	75459763	75459763	+	2	5splicesite	-24.0	A/G	TA	TA->(T/C)A		single	CDS	PF07851.4	TMPIT	-
rs4751995	uc001lcq.1	chr10	118387874	118387874	+	13	3splicesite	-22.0	A/G	GA	GA->G(A/G)	8.63,0.03	single	CDS	-	PNLIPRP2	-
rs4778639	ENST00000394656	chr15	79387506	79387506	+	18	3splicesite	3.0	G/T	AT	AT->A(G/T)	10.20,1.45	single	CDS	-	IL16	asthma|17303923|GAD || Crohn's disease|12706406|GAD || dermatitis and eczema|14657881|GAD || periodontitis|16178875|GAD || asthma|16387589|GAD || asthma; atopy|15784111|GAD || hepatitis C|16447204|GAD
rs4778639	uc002bgd.1	chr15	79387506	79387506	+	21	3splicesite	3.0	G/T	AT	AT->A(G/T)	0.39,0.71	single	CDS	-	IL16	asthma|17303923|GAD || Crohn's disease|12706406|GAD || dermatitis and eczema|14657881|GAD || periodontitis|16178875|GAD || asthma|16387589|GAD || asthma; atopy|15784111|GAD || hepatitis C|16447204|GAD
rs4822321	uc002zvw.1	chr22	21469482	21469482	+	218	5splicesite	-32.0	A/G	CG	CG->C(A/G)		single	3UTR	-	-	-
rs4852974	uc002sjk.1	chr2	73781439	73781439	+	2	5splicesite	-17.0	A/G	TA	TA->(T/C)A		single	CDS	-	NAT8B	-
rs4883543	ENST00000320557	chr12	131712077	131712077	-	22	3splicesite	-3.0	A/G	GG	GG->(A/G)G	8.41	single	CDS	-	-	-
rs489408	ENST00000397635	chr1	38016372	38016372	-	4	3splicesite	-11.0	C/T	GG	GG->(G/A)G	0.04,0.58	single	3UTR	-	-	-
rs4900072	ENST00000389877	chr14	90706285	90706285	+	5	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	ENST00000321157	chr14	90706285	90706285	+	5	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	uc001xze.1	chr14	90706285	90706285	+	6	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	uc001xzf.1	chr14	90706285	90706285	+	5	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	uc001xzb.1	chr14	90706285	90706285	+	7	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	uc001xzc.1	chr14	90706285	90706285	+	5	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4900072	uc001xyx.1	chr14	90706285	90706285	+	7	5splicesite	1.0	C/T	GC	GC->G(C/T)		single	CDS	PF07286.3	C14orf159	-
rs4940595	uc002ljk.1	chr18	59530818	59530818	+	3	5splicesite	-24.0	G/T	TA	TA->(G/T)A		single	CDS	PF00079.11	SERPINB11	-
rs4950402	ENST00000374318	chr1	145258026	145258026	+	2	5splicesite	-16.0	G/T	TT	TT->T(G/T)		single	3UTR	-	-	-
rs4950402	ENST00000374318	chr1	145258026	145258026	+	3	3splicesite	-32.0	G/T	TT	TT->T(G/T)	-2.93,5.82	single	3UTR	-	-	-
rs4972073	uc002stk.1	chr2	89018928	89018928	+	89	3splicesite	-29.0	A/C	GC	GC->(T/G)C	7.07,-13.72	single	3UTR	-	-	-
rs5016968	ENST00000397723	chr17	60184679	60184679	-	8	5splicesite	-9.0	C/G	CT	CT->(C/G)T		single	CDS	PF00514.14	-	-
rs5020285	uc003vgs.1	chr7	113304549	113304549	+	5	3splicesite	-16.0	A/C	TT	TT->T(T/G)		single	5UTR	-	PPP1R3A	diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD
rs505058	ENST00000368298	chr1	154372809	154372809	-	7	5splicesite	-1.0	A/G	AT	AT->A(T/C)		single	CDS	-	-	-
rs513131	ENST00000375726	chr11	104266310	104266310	-	5	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	CDS	-	CASP12	Sepsis, susceptibility, association with|blocked|HGMD || |16917906|GAD || {Sepsis, susceptibility to}|-|OMIM
rs55635838	ENST00000259090	chr8	11603245	11603245	+	2	3splicesite	-16.0	A/G	GG	GG->(A/G)G	2.96,5.89	single	CDS	-	GATA4	Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD
rs55670878	ENST00000259090	chr8	11603243	11603243	+	1	5splicesite	-19.0	C/T	TT	TT->(C/T)T		single	CDS	-	GATA4	Atrial septal defect-2|-|OMIM || Congenital heart defects|blocked|HGMD || heart anomalies, congenital|17352393|GAD || heart anomalies, congenital|17253934|GAD
rs55710139	ENST00000249062	chr22	19900373	19900373	+	6	3splicesite	-3.0	C/T	GG	GG->(G/A)G	4.62	single	3UTR	-	GGT2	[Gamma-glutamyltransferase, familial high serum]|-|OMIM
rs55793274	ENST00000379672	chr17	12799921	12799921	+	15	3splicesite	-11.0	A/T	AT	AT->(A/T)T	8.96,2.46	single	CDS	PF00620.18	-	-
rs55803027	ENST00000393026	chr11	111643773	111643773	+	1	5splicesite	-41.0	A/T	TA	TA->(T/A)A		single	3UTR	-	-	-
rs55819243	ENST00000285021	chr3	14174971	14174971	+	10	5splicesite	-12.0	C/G	GG	GG->G(G/C)		single	CDS	-	XPC	bladder cancer|17052994|GAD || lung cancer|14690560|GAD || pancreatic cancer|17086695|GAD || Xeroderma pigmentosum, group C|-|OMIM || esophageal cancer gastric cardiac cancer|16965652|GAD || oral cancer|16373199|GAD || cytogenetic studies|15471894|GAD || lung cancer|15700316|GAD || esophageal cancer|15878910|GAD || melanoma|17164380|GAD || breast cancer|16399771|GAD || bladder cancer|14688016|GAD || prostate cancer|17196815|GAD || esophageal cancer|16571649|GAD || lung cancer|16351803|GAD || p53 alterations|17374967|GAD || lung cancer|16086280|GAD || cytogenetic studies|16043197|GAD || bladder cancer|17164382|GAD || breast cancer|15010895|GAD || colorectal cancer|17119055|GAD || breast cancer|16823510|GAD || DNA repair capacity|16985021|GAD || lung cancer|15729698|GAD || bladder cancer|15886698|GAD || bladder cancer|16537713|GAD || Decreased function, association with|blocked|HGMD || breast cancer|16002061|GAD || skin cancer, non-melanoma|15914210|GAD || melanoma|15731165|GAD || lung cancer|15533908|GAD || lung cancer|17531525|GAD || lung cancer|16061005|GAD || kidney cancer|16510122|GAD || oral cancer|16393248|GAD || DNA repair capacity|11872635|GAD || head and neck cancer|11981277|GAD || skin cancer, non-melanoma|15863269|GAD || melanoma|16258177|GAD || melanoma|15494739|GAD || colorectal cancer|17363013|GAD || Xeroderma pigmentosum (C)|blocked|HGMD || cytogenetic studies|17078101|GAD || lung cancer|17498315|GAD || head and neck cancer|15657918|GAD || colorectal cancer|16492920|GAD || cytogenetic studies|15992842|GAD || oral premalignant lesions|17575242|GAD || lung cancer|15849729|GAD || lung cancer|15837542|GAD || endometrial cancer|16284373|GAD || cytogenetic studies|14729591|GAD
rs55864001	ENST00000393598	chr17	39694924	39694924	-	1	5splicesite	2.0	C/T	GC	GC->(C/T)C		single	3UTR	-	-	-
rs55924349	ENST00000393237	chr2	112496423	112496423	+	25	5splicesite	-21.0	C/G	GA	GA->(C/G)A		single	CDS	-	-	-
rs55927444	ENST00000380904	chr4	74504669	74504669	+	14	5splicesite	-1.0	C/T	CT	CT->(C/T)T		single	CDS	-	-	-
rs55946993	ENST00000393266	chr7	127997923	127997923	+	1	5splicesite	-2.0	C/T	GA	GA->G(G/A)		single	3UTR	-	-	-
rs55981536	ENST00000393598	chr17	39694923	39694923	-	1	5splicesite	2.0	A/C	GC	GC->G(A/C)		single	3UTR	-	-	-
rs55997063	ENST00000396588	chr2	227826400	227826400	+	13	3splicesite	-18.0	A/T	CT	CT->C(A/T)	3.52,12.27	single	CDS	-	-	-
rs55997063	ENST00000396574	chr2	227826400	227826400	+	13	3splicesite	-18.0	A/T	CT	CT->C(A/T)	3.17,11.92	single	CDS	-	-	-
rs55997063	ENST00000304990	chr2	227826400	227826400	+	13	3splicesite	-18.0	A/T	CT	CT->C(A/T)	-2.82,-3.61	single	CDS	-	-	-
rs55997063	ENST00000315699	chr2	227826400	227826400	+	13	3splicesite	-18.0	A/T	CT	CT->C(A/T)	-0.56,1.70	single	CDS	-	-	-
rs55997063	ENST00000335583	chr2	227826400	227826400	+	13	3splicesite	-18.0	A/T	CT	CT->C(A/T)	8.75,10.04	single	CDS	-	-	-
rs56014161	ENST00000327910	chr17	75525335	75525335	+	2	3splicesite	-26.0	C/T	CG	CG->C(G/A)	5.04,1.43	single	3UTR	-	-	-
rs56014161	ENST00000327910	chr17	75525335	75525335	+	1	5splicesite	-20.0	C/T	GC	GC->(G/A)C		single	3UTR	-	-	-
rs56019407	ENST00000379492	chr9	33432884	33432884	-	4	5splicesite	-10.0	G/T	GA	GA->(G/T)A		single	CDS	-	AQP3	Aquaporin 3 deficiency|blocked|HGMD || [Blood group GIL]|-|OMIM
rs56060925	uc002zvw.1	chr22	21112150	21112150	+	51	3splicesite	-6.0	A/G	TG	TG->T(A/G)	1.25,9.31	single	3UTR	-	-	-
rs56142215	ENST00000382242	chr14	43659285	43659285	+	2	3splicesite	-36.0	C/T	GA	GA->G(G/A)	7.37,-1.23	single	3UTR	-	-	-
rs56180919	ENST00000393266	chr7	127997922	127997922	+	2	3splicesite	-19.0	A/T	TG	TG->(T/A)G	1.36,9.42	single	3UTR	-	-	-
rs56239500	ENST00000330775	chr11	118403645	118403645	+	4	3splicesite	-21.0	A/C	GT	GT->G(T/G)	8.32,4.96	single	CDS	PF00083.15,PF07690.7	SLC37A4	glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD
rs56239500	ENST00000357590	chr11	118403645	118403645	+	5	3splicesite	-21.0	A/C	GT	GT->G(T/G)	7.37,12.38	single	CDS	PF00083.15,PF07690.7	SLC37A4	glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD
rs56239500	uc001pus.1	chr11	118403645	118403645	+	5	3splicesite	-21.0	A/C	GT	GT->G(T/G)	0.27,8.33	single	CDS	PF00654.11,PF00083.15,PF07690.7	SLC37A4	glycogen storage disease|15906092|GAD || SIDS/sudden infant death syndrome|17354259|GAD || Glycogen storage disease 1b|blocked|HGMD || Glycogen storage disease 1 non-a|blocked|HGMD || Glycogen storage disease 1b ?|blocked|HGMD || Glycogen storage disease 1c|blocked|HGMD || Glycogen storage disease 1d|blocked|HGMD
rs56246713	ENST00000338759	chr6	41213072	41213072	+	2	3splicesite	5.0	G/T	AT	AT->A(G/T)	0.38	single	CDS	-	-	-
rs56287138	uc001yrq.1	chr14	105400744	105400744	+	2752	3splicesite	-11.0	A/C	CT	CT->C(T/G)	11.88,9.65	single	3UTR	-	-	-
rs56291320	uc001dlu.1	chr1	86818490	86818490	+	15	3splicesite	-2.0	A/T	AC	AC->(A/T)C	12.37,3.62	single	CDS	-	CLCA4	-
rs56298202	ENST00000392992	chr17	56836948	56836948	+	5	5splicesite	-12.0	C/G	CG	CG->(C/G)G		single	3UTR	-	-	-
rs56314617	ENST00000368122	chr1	157440686	157440686	+	2	3splicesite	-35.0	A/T	CA	CA->(A/T)A	1.13,-2.13	single	5UTR	-	DARC	|15783300|GAD || Duffy blood group antigen, absence|blocked|HGMD || Duffy blood group variation|blocked|HGMD
rs56357931	uc002mih.1	chr19	7736670	7736670	+	4	5splicesite	-11.0	A/G	GC	GC->(A/G)C		single	CDS	PF05701.2	CLEC4M	SARS infection|16369534|GAD || HIV|16453266|GAD || hepatitis C|16364081|GAD || SARS infection, protection against|-|OMIM || HIV|17530994|GAD || HIV|12403912|GAD || |17509452|GAD
rs56391658	ENST00000327003	chr11	56264802	56264802	+	1	5splicesite	-24.0	A/C	GC	GC->G(A/C)		single	3UTR	-	-	-
rs56391658	ENST00000327003	chr11	56264802	56264802	+	2	3splicesite	-26.0	A/C	GC	GC->G(A/C)	-2.01,3.30	single	3UTR	-	-	-
rs56660236	ENST00000400124	chr22	40101559	40101559	+	1	5splicesite	-24.0	A/G	CC	CC->(T/C)C		single	CDS	-	-	-
rs56778768	ENST00000399720	chr4	49249278	49249278	+	3	3splicesite	1.0	A/C	AA	AA->A(A/C)	0.71,8.77	single	CDS	-	-	-
rs57083553	ENST00000397321	chr12	131559542	131559542	+	8	3splicesite	-37.0	A/G	TC	TC->T(T/C)	2.83,11.58	single	CDS	-	MUC8	-
rs57149276	ENST00000397509	chr15	38560643	38560643	+	1	5splicesite	-27.0	C/T	GG	GG->G(G/A)		single	3UTR	-	-	-
rs57342833	ENST00000328897	chrX	152611680	152611680	+	1	5splicesite	-24.0	G/T	GG	GG->(G/T)G		single	CDS	PF00209.9	-	-
rs57724954	ENST00000319809	chrX	131919893	131919893	+	3	3splicesite	-9.0	A/T	AT	AT->(T/A)T	0.58	single	CDS	-	HS6ST2	-
rs580060	ENST00000401003	chr1	148547826	148547826	-	4	3splicesite	-14.0	G/T	TC	TC->(G/T)C	5.28,-3.47	single	CDS	-	-	-
rs58084516	uc001yrq.1	chr14	105558733	105558733	+	1315	3splicesite	-1.0	C/T	GG	GG->(G/A)G	10.62,1.87	single	3UTR	-	-	-
rs58133442	uc001yrq.1	chr14	105554745	105554745	+	1340	3splicesite	-16.0	C/T	GT	GT->(G/A)T	0.90,1.87	single	3UTR	-	-	-
rs58157868	ENST00000398903	chr8	144225207	144225207	+	3	5splicesite	-37.0	G/T	CA	CA->C(C/A)		single	CDS	-	-	-
rs58264281	uc002qod.1	chr19	62434301	62434301	+	1	5splicesite	-14.0	C/T	GC	GC->G(C/T)		single	5UTR	-	AURKC	-
rs58541611	ENST00000368298	chr1	154372808	154372808	+	7	5splicesite	-1.0	A/T	AT	AT->(A/T)T		single	CDS	-	-	-
rs58545118	uc001gvj.1	chr1	198905665	198905665	+	2	3splicesite	-12.0	G/T	TC	TC->T(C/A)	10.20,1.60	single	3UTR	-	DDX59	-
rs588703	uc002icl.1	chr17	38419019	38419019	-	5	3splicesite	-8.0	C/T	AT	AT->(G/A)T	5.68,-3.07	single	CDS	PF07292.4	IFI35	-
rs5927639	ENST00000378932	chrX	30827107	30827107	+	2	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	MAP3K7IP3	-
rs5927639	ENST00000288422	chrX	30827107	30827107	+	2	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	MAP3K7IP3	-
rs5927639	uc004dck.1	chrX	30827107	30827107	+	2	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	3UTR	-	TAB3	-
rs59550975	ENST00000356294	chr1	246314371	246314371	+	1	5splicesite	-19.0	A/G	CG	CG->(T/C)G		single	3UTR	-	-	-
rs60006344	uc001yrq.1	chr14	105558732	105558732	+	1315	3splicesite	-1.0	C/G	GG	GG->G(G/C)	10.62,1.87	single	3UTR	-	-	-
rs6003249	uc002zvw.1	chr22	21394738	21394738	+	157	3splicesite	-22.0	A/G	AC	AC->(A/G)C	9.31	single	3UTR	-	-	-
rs6011548	ENST00000370341	chr20	61136508	61136508	+	3	3splicesite	0.0	C/G/T	GG	GG->(G/C/A)G	9.01,2.19,10.79	single	CDS	-	C20orf51	-
rs6026635	ENST00000371052	chr20	56990625	56990625	+	6	3splicesite	-11.0	G/T	AC	AC->(C/A)C	0.67,9.42	single	CDS	-	CTSZ	-
rs60447626	ENST00000398903	chr8	144225205	144225205	+	4	3splicesite	-20.0	C/T	CG	CG->C(G/A)	3.05,-4.90	single	CDS	-	-	-
rs6075338	ENST00000262547	chr20	18341499	18341499	+	12	3splicesite	-3.0	C/T	GG	GG->(G/A)G	9.01,4.71	single	CDS	-	C20orf12	-
rs6075338	ENST00000358866	chr20	18341499	18341499	+	8	3splicesite	-3.0	C/T	GG	GG->(G/A)G	7.09,0.71	single	CDS	-	-	-
rs6075338	uc002wqt.1	chr20	18341499	18341499	+	12	3splicesite	-3.0	C/T	GG	GG->(G/A)G	6.01	single	CDS	-	-	-
rs61032550	ENST00000313946	chr3	75566854	75566854	+	1	5splicesite	0.0	A/C	GG	GG->G(T/G)		single	CDS	-	-	-
rs61528920	ENST00000395679	chr8	120561752	120561752	+	3	5splicesite	-24.0	A/G	AC	AC->A(T/C)		single	3UTR	-	-	-
rs61729122	ENST00000399961	chr15	31322195	31322195	+	7	5splicesite	-1.0	C/T	GC	GC->G(G/A)		single	CDS	-	-	-
rs61731042	ENST00000339532	chr18	22696208	22696208	+	3	3splicesite	-19.0	C/T	TT	TT->(G/A)T	9.73,2.93	single	CDS	-	AQP4	schizophrenia|16194264|GAD
rs61734033	uc003lwj.1	chr5	156412163	156412163	+	4	5splicesite	-17.0	C/T	AC	AC->(G/A)C		single	CDS	PF01688.8	HAVCR1	{Atopy, resistance to}|-|OMIM || Allergic diseases, sucept., association with ?|blocked|HGMD || dermatitis and eczema|16940744|GAD || asthma|17117951|GAD || asthma|17570927|GAD || atopic asthma|12618867|GAD || asthma|15867855|GAD
rs61739410	ENST00000338950	chr6	15641448	15641448	+	10	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	ENST00000344537	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	ENST00000397306	chr6	15641448	15641448	+	9	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	ENST00000397302	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	ENST00000355917	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	uc003nbm.1	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	uc003nbp.1	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	-	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61739410	uc003nbl.1	chr6	15641448	15641448	+	8	5splicesite	2.0	C/T	GC	GC->G(G/A)		single	CDS	PF04440.7	DTNBP1	schizophrenia|16513878|GAD || depressive disorder, major|17264804|GAD || schizophrenia|12591580|GAD || schizophrenia|17407805|GAD || depressive disorder, major|15274041|GAD || cognitive ability|16415041|GAD || psychoses schizophrenia|17445278|GAD || schizophrenia|17408693|GAD || cognitive function|17074466|GAD || schizophrenia|17604607|GAD || bipolar disorder schizoaffective disorder|17433541|GAD || schizophrenia|17055463|GAD || schizophrenia|15362017|GAD || schizophrenia|16959423|GAD || schizophrenia|16967465|GAD || schizophrenia|12474144|GAD || Hermansky-Pudlak syndrome|blocked|HGMD || schizophrenia|15374586|GAD || {Schizophrenia}|-|OMIM || Hermansky-Pudlak syndrome 7|-|OMIM || schizophrenia|16876895|GAD || schizophrenia|14618545|GAD || bipolar disorder|17192893|GAD || schizophrenia|16899160|GAD || bipolar disorder|15820225|GAD || schizophrenia|17410640|GAD || schizophrenia|17618940|GAD || schizophrenia|17476109|GAD || cognitive function schizotypy|17336946|GAD || schizophrenia|17300918|GAD || schizophrenia|16044171|GAD || bipolar disorder|16946192|GAD || Schizophrenia|15066891|GAD
rs61741922	ENST00000389003	chr17	23986257	23986257	+	17	3splicesite	-4.0	A/G	CG	CG->C(T/C)	-2.17,6.58	single	CDS	-	-	-
rs61744456	ENST00000321188	chr1	20884266	20884266	+	9	3splicesite	-36.0	A/G	AA	AA->(T/C)A	2.47	single	CDS	-	-	-
rs61751261	ENST00000370225	chr1	94236004	94236004	-	48	5splicesite	3.0	A/G	GC	GC->(A/G)C		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61751261	ENST00000361520	chr1	94236004	94236004	-	48	5splicesite	3.0	A/G	GC	GC->(A/G)C		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61751261	uc001dqh.1	chr1	94236004	94236004	-	48	5splicesite	3.0	A/G	GC	GC->(A/G)C		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61753043	ENST00000370225	chr1	94239144	94239144	-	46	5splicesite	3.0	C/G	GC	GC->G(C/G)		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61753043	ENST00000361520	chr1	94239144	94239144	-	46	5splicesite	3.0	C/G	GC	GC->G(C/G)		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61753043	uc001dqh.1	chr1	94239144	94239144	-	46	5splicesite	3.0	C/G	GC	GC->G(C/G)		single	CDS	-	ABCA4	macular degeneration|11346402|GAD || Macular degeneration, age related|blocked|HGMD || Cone-rod dystrophy 3|-|OMIM || Fundus flavimaculatus|blocked|HGMD || Stargardt disease-1|-|OMIM || Stargardt disease and macular degeneration|blocked|HGMD || Fundus flavimaculatus|-|OMIM || Macular degeneration, age-related, 2|-|OMIM || Cone-rod degeneration|blocked|HGMD || Stargardt disease|blocked|HGMD || Retinal dystrophy, early-onset severe|-|OMIM || cone-rod dystrophy; retinitis pigmentosa|11973624|GAD || cone-rod dystrophy macular dystrophy retinitis pigmentosa|17325136|GAD || Retinitis pigmentosa|blocked|HGMD || Fundus flavimaculatus, late onset|blocked|HGMD || age-related maculopathy.|12824224|GAD || Stargardt disease ?|blocked|HGMD || Retinal dystrophy|blocked|HGMD || maculopathy|12824224|GAD || macular degeneration|12592048|GAD || Late-onset Stargardt disease|11379881|GAD || macular degeneration; Stargardt disease|11328725|GAD || Cone-rod dystrophy|blocked|HGMD || Stargardt disease, association with|blocked|HGMD || cone-rod dystrophy|12796258|GAD || Retinitis pigmentosa-19|-|OMIM || Stargardt disease|15223829|GAD || Macular degeneration, age related ?|blocked|HGMD || Stargardt disease|16303926|GAD || cone-rod dystrophy; retinitis pigmentosa|15494742|GAD || cone-rod dystrophy|15017103|GAD
rs61816394	ENST00000369334	chr1	144023142	144023142	+	14	3splicesite	2.0	C/G	AC	AC->A(C/G)	-1.28,6.67	single	5UTR	-	-	-
rs61842449	ENST00000378211	chr10	15158524	15158524	+	5	3splicesite	-10.0	G/T	AA	AA->A(C/A)	6.22	single	5UTR	-	ACBD7	-
rs61868688	uc001lnp.1	chr10	135230331	135230331	+	3	3splicesite	-18.0	G/T	AC	AC->A(C/A)	9.15,0.55	single	5UTR	-	-	-
rs61868697	uc001lnp.1	chr10	135230400	135230400	+	2	5splicesite	-19.0	A/G	CT	CT->C(T/C)		single	5UTR	-	-	-
rs61876746	ENST00000321883	chr11	817713	817713	+	1	5splicesite	0.0	A/T	GA	GA->G(A/T)		single	5UTR	-	EFCAB4A	-
rs61876746	ENST00000327417	chr11	817713	817713	+	1	5splicesite	0.0	A/T	GA	GA->G(A/T)		single	5UTR	-	EFCAB4A	-
rs61876746	uc001lru.1	chr11	817713	817713	+	1	5splicesite	0.0	A/T	GA	GA->G(A/T)		single	5UTR	-	EFCAB4A	-
rs61986176	ENST00000379908	chr14	105240821	105240821	+	1	5splicesite	-17.0	C/G	TG	TG->T(G/C)		single	CDS	-	-	-
rs61987836	ENST00000398929	chr14	64803741	64803741	+	2	3splicesite	-34.0	C/T	AA	AA->A(G/A)	8.22,-0.15	single	CDS	-	-	-
rs62026971	uc002bxn.1	chr15	100110362	100110362	+	4	5splicesite	-6.0	A/C	GC	GC->G(A/C)		single	CDS	-	-	-
rs62034315	ENST00000328423	chr16	28414913	28414913	+	2	5splicesite	-1.0	A/C	GA	GA->G(A/C)		single	CDS	-	-	-
rs62071307	ENST00000392992	chr17	56836951	56836951	+	6	3splicesite	-37.0	C/G	GC	GC->G(C/G)	13.37,5.42	single	3UTR	-	-	-
rs62080098	uc002kla.1	chr18	899884	899884	+	5	3splicesite	-12.0	C/T	AT	AT->A(C/T)	-0.82,5.55	single	3UTR	-	ADCYAP1	schizophrenia; bipolar disorder|11515750|GAD || diabetes, type 2|11968092|GAD || multiple sclerosis|17175032|GAD
rs62173315	ENST00000355513	chr2	170314802	170314802	+	2	3splicesite	-18.0	A/G	TA	TA->(T/C)A	1.05,11.66	single	CDS	-	-	-
rs62173315	ENST00000355513	chr2	170314802	170314802	+	1	5splicesite	-31.0	A/G	TA	TA->(T/C)A		single	CDS	-	-	-
rs62182402	ENST00000392592	chr2	172449265	172449265	+	1	5splicesite	1.0	C/T	AT	AT->(G/A)T		single	CDS	-	-	-
rs62376983	ENST00000398996	chr5	108952694	108952694	+	2	5splicesite	-5.0	C/T	CT	CT->C(C/T)		single	3UTR	-	-	-
rs62444320	ENST00000315448	chr7	5078356	5078356	+	1	5splicesite	-21.0	C/T	TG	TG->(C/T)G		single	5UTR	-	-	-
rs62444320	uc003snt.1	chr7	5078356	5078356	+	1	5splicesite	-21.0	C/T	TG	TG->(C/T)G		single	5UTR	-	LOC389458	-
rs62490668	uc003vgs.1	chr7	113304550	113304550	+	5	3splicesite	-16.0	A/T	TT	TT->(T/A)T		single	5UTR	-	PPP1R3A	diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD
rs62490669	uc003vgs.1	chr7	113304553	113304553	+	4	5splicesite	-18.0	A/G	TC	TC->T(T/C)		single	5UTR	-	PPP1R3A	diabetes, type 2; hypertriglyceridemic waist|16276364|GAD || atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic|11512679|GAD || Alzheimer's Disease|12185156|GAD || diabetes, type 2|14767904|GAD || polycystic ovary syndrome; diabetes|15181086|GAD || diabetes, type 2|11793847|GAD || Insulin resistance, association with|blocked|HGMD || Insulin resistance|blocked|HGMD || Insulin resistance, severe, digenic|-|OMIM || diabetes, type 2|15231141|GAD || diabetes, type 2|7581368|GAD || colorectal cancer|15870946|GAD || Glycemia variation, association with|blocked|HGMD || diabetes, type 2|10389856|GAD
rs62636615	ENST00000395545	chr17	19625007	19625007	+	24	3splicesite	-5.0	A/G	GG	GG->(T/C)G	2.19,10.79	single	CDS	PF06293.5,PF07714.8,PF00069.16	-	-
rs6576212	uc001yrq.1	chr14	106231114	106231114	+	22	5splicesite	-12.0	A/G	TT	TT->(T/C)T		single	3UTR	-	-	-
rs6578185	uc003ywi.1	chr8	142527235	142527235	+	21	5splicesite	-22.0	A/G	TA	TA->(T/C)A		single	CDS	-	FLJ43860	-
rs6578193	uc003ywi.1	chr8	142574220	142574220	+	4	3splicesite	1.0	C/T	AA	AA->A(G/A)		single	CDS	-	FLJ43860	-
rs6632884	ENST00000366382	chrX	16681467	16681467	+	1	5splicesite	-18.0	A/T	TA	TA->(A/T)A		single	3UTR	-	-	-
rs6632884	ENST00000366382	chrX	16681467	16681467	+	2	3splicesite	-18.0	A/T	TA	TA->(A/T)A	2.91,11.66	single	3UTR	-	-	-
rs683733	ENST00000344342	chr18	6946738	6946738	+	8	5splicesite	-28.0	A/C	GG	GG->G(T/G)		single	CDS	PF00054.14,PF02210.15	LAMA1	-
rs6960187	ENST00000378016	chr7	149161827	149161827	+	19	3splicesite	3.0	A/G	GG	GG->(A/G)G	8.17,-1.67	single	3UTR	-	SSPO	-
rs6977674	uc003ugz.1	chr7	77825646	77825646	+	6	5splicesite	-26.0	C/T	TG	TG->(C/T)G		single	CDS	-	-	-
rs7105857	ENST00000398035	chr11	110675954	110675954	+	1	5splicesite	-5.0	C/T	GC	GC->G(C/T)		single	5UTR	-	-	-
rs7105857	uc001plf.1	chr11	110675954	110675954	+	1	5splicesite	-5.0	C/T	GC	GC->G(C/T)		single	5UTR	-	-	-
rs7145957	uc001yrq.1	chr14	105562953	105562953	+	1293	3splicesite	-13.0	G/T	AA	AA->(C/A)A	10.62	single	3UTR	-	-	-
rs7146961	uc001yrq.1	chr14	106064843	106064843	+	106	5splicesite	-29.0	C/T	GG	GG->(G/A)G		single	3UTR	-	-	-
rs7152544	uc001yrq.1	chr14	105512441	105512441	+	1528	3splicesite	-32.0	C/T	TA	TA->T(G/A)	10.62,1.87	single	3UTR	-	-	-
rs7154767	uc001yrq.1	chr14	105752710	105752710	+	567	3splicesite	-15.0	A/G	TA	TA->(T/C)A	10.62,6.33	single	3UTR	-	-	-
rs7160187	uc001yrq.1	chr14	105547561	105547561	+	1366	5splicesite	-28.0	A/G	TC	TC->(T/C)C		single	3UTR	-	-	-
rs7226242	ENST00000283936	chr17	65608503	65608503	+	2	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	5UTR	-	-	-
rs7226242	ENST00000392671	chr17	65608503	65608503	+	2	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	5UTR	-	KCNJ16	-
rs7226242	uc002jin.1	chr17	65608503	65608503	+	2	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	5UTR	-	KCNJ16	-
rs7226242	uc002jio.1	chr17	65608503	65608503	+	2	5splicesite	2.0	A/G	AT	AT->(A/G)T		single	5UTR	-	KCNJ16	-
rs7292358	uc002zvw.1	chr22	21561769	21561769	+	299	5splicesite	-23.0	C/T	CT	CT->(C/T)T		single	3UTR	-	-	-
rs7439293	ENST00000398768	chr4	169914061	169914061	+	4	5splicesite	-26.0	A/G	TG	TG->T(A/G)		single	3UTR	-	-	-
rs7439293	ENST00000398768	chr4	169914061	169914061	+	5	3splicesite	-12.0	A/G	TG	TG->T(A/G)	-0.26,8.49	single	3UTR	-	-	-
rs747250	ENST00000318117	chr11	129776888	129776888	+	9	3splicesite	1.0	G/T	AT	AT->A(G/T)	10.67,7.39	single	CDS	-	-	-
rs7539396	ENST00000327057	chr1	54273048	54273048	+	1	5splicesite	-36.0	A/G	TC	TC->T(T/C)		single	3UTR	-	-	-
rs7654611	ENST00000399073	chr4	120547752	120547752	+	3	3splicesite	-24.0	A/G	TG	TG->(T/C)G	0.39,9.14	single	3UTR	-	-	-
rs7654738	ENST00000337500	chr4	77006697	77006697	+	15	3splicesite	-1.0	C/T	AA	AA->A(G/A)	-0.56	single	CDS	-	-	-
rs7720935	ENST00000377087	chr5	177311565	177311565	+	3	5splicesite	0.0	C/T	GC	GC->G(C/T)		single	CDS	-	-	-
rs7720935	uc003mie.1	chr5	177311565	177311565	+	1	5splicesite	0.0	C/T	GC	GC->G(C/T)		single	3UTR	-	-	-
rs7726569	ENST00000296803	chr5	41113201	41113201	+	1	5splicesite	-8.0	C/G	CA	CA->(G/C)A		single	CDS	-	-	-
rs774774	uc003dyp.1	chr3	113243461	113243461	+	2	3splicesite	-14.0	A/G	AA	AA->A(A/G)	6.54	single	5UTR	-	TMPRSS7	-
rs7814198	uc003ydr.1	chr8	87310963	87310963	+	1	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	CDS	PF00324.12	SLC7A13	-
rs8009554	uc001yrq.1	chr14	105851862	105851862	+	261	3splicesite	-12.0	A/C	GT	GT->G(T/G)	-2.04,9.82	single	3UTR	-	-	-
rs8013561	uc001yrq.1	chr14	105446001	105446001	+	2059	5splicesite	-26.0	G/T	AC	AC->A(C/A)		single	3UTR	-	-	-
rs8043581	ENST00000397698	chr16	482394	482394	+	1	5splicesite	-31.0	C/T	TC	TC->(C/T)C		single	3UTR	-	-	-
rs8065203	ENST00000392453	chr17	74200174	74200174	+	10	3splicesite	-4.0	A/C	TG	TG->T(T/G)	8.91,0.16	single	CDS	-	PSCD1	-
rs8100936	ENST00000395947	chr19	641902	641902	+	1	5splicesite	-20.0	C/T	TC	TC->(C/T)C		single	3UTR	-	-	-
rs8100936	ENST00000395947	chr19	641902	641902	+	2	3splicesite	-25.0	C/T	TC	TC->(C/T)C	-1.09,7.66	single	3UTR	-	-	-
rs8100996	ENST00000359014	chr19	58037226	58037226	+	2	3splicesite	-6.0	A/T	AA	AA->A(T/A)	-5.65,-0.97	single	3UTR	-	ZNF468	-
rs8107859	uc002ngx.1	chr19	17509350	17509350	+	6	5splicesite	-34.0	C/T	TA	TA->(C/T)A		single	CDS	-	FAM129C	-
rs8109273	ENST00000397759	chr19	12085172	12085172	+	2	5splicesite	-1.0	C/T	AT	AT->A(C/T)		single	CDS	PF00096.17	-	-
rs885890	uc001yrq.1	chr14	105607790	105607790	-	1119	5splicesite	-28.0	C/T	TT	TT->T(C/T)		single	3UTR	-	-	-
rs888835	uc002pgh.1	chr19	52466831	52466831	-	13	3splicesite	-7.0	A/G	GC	GC->G(T/C)	13.32,4.72	single	3UTR	-	CCDC9	-
rs907593	uc002bca.1	chr15	74984008	74984008	+	2	5splicesite	2.0	A/G	GC	GC->G(T/C)		single	3UTR	-	ZNF291	-
rs9259839	uc003nog.1	chr6	30003908	30003908	+	3	5splicesite	1.0	C/G	GC	GC->(G/C)C		single	3UTR	-	-	-
rs9264742	ENST00000399193	chr6	31352595	31352595	+	1	5splicesite	-1.0	C/T	AT	AT->A(C/T)		single	3UTR	-	-	-
rs9333378	ENST00000367883	chr1	163868090	163868090	+	2	3splicesite	1.0	A/G	GG	GG->(A/G)G	10.55,1.80	single	5UTR	-	-	-
rs9333378	ENST00000367885	chr1	163868090	163868090	+	2	3splicesite	1.0	A/G	GG	GG->(A/G)G	10.55,1.80	single	5UTR	-	-	-
rs9468483	ENST00000377170	chr6	29171214	29171214	+	1	5splicesite	-1.0	C/T	CT	CT->(C/T)T		single	CDS	-	OR2J1	-
rs9607632	ENST00000328995	chr22	38041671	38041671	+	4	3splicesite	-10.0	C/G	GG	GG->(G/C)G	6.13,-2.21	single	CDS	-	RPL3	-
rs9607798	ENST00000366395	chr22	40089933	40089933	+	2	3splicesite	-24.0	A/G	TT	TT->(T/C)T	2.91,2.64	single	3UTR	-	-	-
rs9623962	uc002zvw.1	chr22	21561130	21561130	+	298	5splicesite	-35.0	A/G	AG	AG->A(A/G)		single	3UTR	-	-	-
rs9624069	ENST00000398512	chr22	21933078	21933078	+	1	5splicesite	-15.0	C/T	CT	CT->(C/T)T		single	CDS	-	-	-
rs9668818	uc001uln.1	chr12	132124470	132124470	+	1	5splicesite	-10.0	C/T	CC	CC->(C/T)C		single	5UTR	-	ZNF84	-
rs9671626	uc001yrq.1	chr14	105434793	105434793	+	2223	3splicesite	-14.0	C/T	GG	GG->(G/A)G	1.07,-11.41	single	3UTR	-	-	-
rs9699928	ENST00000358829	chr1	17533473	17533473	+	5	5splicesite	-28.0	C/T	CT	CT->(C/T)T		single	CDS	-	-	-
rs9775264	ENST00000388932	chr9	139259578	139259578	+	3	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	CDS	-	-	-
rs9775264	ENST00000344774	chr9	139259578	139259578	+	3	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	CDS	-	-	-
rs9775264	uc004cmi.1	chr9	139259578	139259578	+	3	5splicesite	-1.0	A/G	GC	GC->G(T/C)		single	CDS	-	LOC401565	-
rs9795469	uc001ogk.1	chr11	65469783	65469783	+	1	5splicesite	-15.0	C/T	TG	TG->(C/T)G		single	CDS	-	TSGA10IP	-
rs9959632	ENST00000400334	chr18	57956512	57956512	+	13	3splicesite	1.0	C/T	AA	AA->A(G/A)	9.85	single	CDS	PF04987.5	PIGN	-
rs9959632	ENST00000357637	chr18	57956512	57956512	+	14	3splicesite	1.0	C/T	AA	AA->A(G/A)	4.42,6.29	single	CDS	PF04987.5	PIGN	-