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rs267606971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606971(C;T)
Make rs267606971(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77302940
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606971
ebirs267606971
HLIrs267606971
Exacrs267606971
Varsomers267606971
Maprs267606971
PheGenIrs267606971
hapmaprs267606971
1000 genomesrs267606971
hgdprs267606971
ensemblrs267606971
gopubmedrs267606971
geneviewrs267606971
scholarrs267606971
googlers267606971
pharmgkbrs267606971
gwascentralrs267606971
openSNPrs267606971
23andMers267606971
23andMe allrs267606971
SNP Nexus

SNPshotrs267606971
SNPdbers267606971
MSV3drs267606971
GWAS Ctlgrs267606971
Max Magnitude0
ClinVar
Risk rs267606971(T;T)
Alt rs267606971(T;T)
Reference rs267606971(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy-dystroglycanopathy not provided
Variation info
Gene POMT2
CLNDBN Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 not provided
Reversed 1
HGVS NC_000014.8:g.77769283G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003385.3, RCV000081575.4,