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rs267606964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606964(C;C)
Make rs267606964(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77277387
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606964
ebirs267606964
HLIrs267606964
Exacrs267606964
Varsomers267606964
Maprs267606964
PheGenIrs267606964
hapmaprs267606964
1000 genomesrs267606964
hgdprs267606964
ensemblrs267606964
gopubmedrs267606964
geneviewrs267606964
scholarrs267606964
googlers267606964
pharmgkbrs267606964
gwascentralrs267606964
openSNPrs267606964
23andMers267606964
23andMe allrs267606964
SNP Nexus

SNPshotrs267606964
SNPdbers267606964
MSV3drs267606964
GWAS Ctlgrs267606964
Max Magnitude0
ClinVar
Risk rs267606964(C;C)
Alt rs267606964(C;C)
Reference rs267606964(T;T)
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.77743730A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003380.3,