rs587777816

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs587777816(C;G)

Make rs587777816(G;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

77320429

Gene	GSTZ1, POMT2

is a	snp
is	mentioned by
dbSNP	rs587777816
dbSNP (classic)	rs587777816
ClinGen	rs587777816
ebi	rs587777816
HLI	rs587777816
Exac	rs587777816
Gnomad	rs587777816
Varsome	rs587777816
LitVar	rs587777816
Map	rs587777816
PheGenI	rs587777816
Biobank	rs587777816
1000 genomes	rs587777816
hgdp	rs587777816
ensembl	rs587777816
geneview	rs587777816
scholar	rs587777816
google	rs587777816
pharmgkb	rs587777816
gwascentral	rs587777816
openSNP	rs587777816
23andMe	rs587777816
SNPshot	rs587777816
SNPdbe	rs587777816
MSV3d	rs587777816
GWAS Ctlg	rs587777816

Max Magnitude

0

ClinVar
Risk	rs587777816(G;G)
Alt	rs587777816(G;G)
Reference	Rs587777816(C;C)
Significance	Pathogenic
Disease	Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation	info
Gene	POMT2 GSTZ1
CLNDBN	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Reversed	0
HGVS	NC_000014.8:g.77786772C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003390.5,