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rs267606967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606967(C;C)
Make rs267606967(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77277386
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606967
ebirs267606967
HLIrs267606967
Exacrs267606967
Varsomers267606967
Maprs267606967
PheGenIrs267606967
hapmaprs267606967
1000 genomesrs267606967
hgdprs267606967
ensemblrs267606967
gopubmedrs267606967
geneviewrs267606967
scholarrs267606967
googlers267606967
pharmgkbrs267606967
gwascentralrs267606967
openSNPrs267606967
23andMers267606967
23andMe allrs267606967
SNP Nexus

SNPshotrs267606967
SNPdbers267606967
MSV3drs267606967
GWAS Ctlgrs267606967
Max Magnitude0
ClinVar
Risk rs267606967(C;C)
Alt rs267606967(C;C)
Reference rs267606967(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy
Variation info
Gene POMT2
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C2
Reversed 1
HGVS NC_000014.8:g.77743729C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003386.3,