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rs267606966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606966(A;A)
Make rs267606966(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77301169
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606966
ebirs267606966
HLIrs267606966
Exacrs267606966
Varsomers267606966
Maprs267606966
PheGenIrs267606966
hapmaprs267606966
1000 genomesrs267606966
hgdprs267606966
ensemblrs267606966
gopubmedrs267606966
geneviewrs267606966
scholarrs267606966
googlers267606966
pharmgkbrs267606966
gwascentralrs267606966
openSNPrs267606966
23andMers267606966
23andMe allrs267606966
SNP Nexus

SNPshotrs267606966
SNPdbers267606966
MSV3drs267606966
GWAS Ctlgrs267606966
Max Magnitude0
ClinVar
Risk rs267606966(A;A)
Alt rs267606966(A;A)
Reference rs267606966(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.77767512C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003384.4,