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rs587777816

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777816(C;G)
Make rs587777816(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position77320429
GeneGSTZ1, POMT2
is asnp
is mentioned by
dbSNPrs587777816
ebirs587777816
HLIrs587777816
Exacrs587777816
Varsomers587777816
Maprs587777816
PheGenIrs587777816
hapmaprs587777816
1000 genomesrs587777816
hgdprs587777816
ensemblrs587777816
gopubmedrs587777816
geneviewrs587777816
scholarrs587777816
googlers587777816
pharmgkbrs587777816
gwascentralrs587777816
openSNPrs587777816
23andMers587777816
23andMe allrs587777816
SNP Nexus

SNPshotrs587777816
SNPdbers587777816
MSV3drs587777816
GWAS Ctlgrs587777816
Max Magnitude0
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 RCV000003390.4,