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rs267606963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606963(A;A)
Make rs267606963(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77278820
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606963
ebirs267606963
HLIrs267606963
Exacrs267606963
Varsomers267606963
Maprs267606963
PheGenIrs267606963
hapmaprs267606963
1000 genomesrs267606963
hgdprs267606963
ensemblrs267606963
gopubmedrs267606963
geneviewrs267606963
scholarrs267606963
googlers267606963
pharmgkbrs267606963
gwascentralrs267606963
openSNPrs267606963
23andMers267606963
23andMe allrs267606963
SNP Nexus

SNPshotrs267606963
SNPdbers267606963
MSV3drs267606963
GWAS Ctlgrs267606963
Max Magnitude0
ClinVar
Risk rs267606963(A;A)
Alt rs267606963(A;A)
Reference rs267606963(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Reversed 1
HGVS NC_000014.8:g.77745163C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003379.3,