rs1060503378

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AG)	8.8	Mental retardation, type 5; SYNGAP1-related
(AG;AG)	0	common in clinvar

Make rs1060503378(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33438072

Gene	MIR5004, SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1060503378
dbSNP (classic)	rs1060503378
ClinGen	rs1060503378
ebi	rs1060503378
HLI	rs1060503378
Exac	rs1060503378
Gnomad	rs1060503378
Varsome	rs1060503378
LitVar	rs1060503378
Map	rs1060503378
PheGenI	rs1060503378
Biobank	rs1060503378
1000 genomes	rs1060503378
hgdp	rs1060503378
ensembl	rs1060503378
geneview	rs1060503378
scholar	rs1060503378
google	rs1060503378
pharmgkb	rs1060503378
gwascentral	rs1060503378
openSNP	rs1060503378
23andMe	rs1060503378
SNPshot	rs1060503378
SNPdbe	rs1060503378
MSV3d	rs1060503378
GWAS Ctlg	rs1060503378

Max Magnitude

8.8

ClinVar
Risk	rs1060503378(-;-)
Alt	rs1060503378(-;-)
Reference	Rs1060503378(AG;AG)
Significance	Pathogenic
Disease	Mental retardation not provided
Variation	info
Gene	MIR5004 SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5 not provided
Reversed	0
HGVS	NC_000006.11:g.33405849_33405850delAG
CLNSRC
CLNACC	RCV000457705.1, RCV000482994.1,