rs1064792905

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AGGAAAACTGCG)	5	Familial Hypercholesterolemia
(AGGAAAACTGCG;AGGAAAACTGCG)	0	common/normal
(CGAGGAAAACTG;CGAGGAAAACTG)	0	common in clinvar

Chromosome

19

Position

11105589

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1064792905
dbSNP (classic)	rs1064792905
ClinGen	rs1064792905
ebi	rs1064792905
HLI	rs1064792905
Exac	rs1064792905
Gnomad	rs1064792905
Varsome	rs1064792905
LitVar	rs1064792905
Map	rs1064792905
PheGenI	rs1064792905
Biobank	rs1064792905
1000 genomes	rs1064792905
hgdp	rs1064792905
ensembl	rs1064792905
geneview	rs1064792905
scholar	rs1064792905
google	rs1064792905
pharmgkb	rs1064792905
gwascentral	rs1064792905
openSNP	rs1064792905
23andMe	rs1064792905
SNPshot	rs1064792905
SNPdbe	rs1064792905
MSV3d	rs1064792905
GWAS Ctlg	rs1064792905

Max Magnitude

5

ClinVar
Risk	rs1064792905(-;-)
Alt	rs1064792905(-;-)
Reference	Rs1064792905(CGAGGAAAACTG;CGAGGAAAACTG)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216265_11216276delAGGAAAACTGCG
CLNSRC
CLNACC	RCV000454717.1,