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rs267606970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606970(A;A)
Make rs267606970(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77296223
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606970
ebirs267606970
HLIrs267606970
Exacrs267606970
Varsomers267606970
Maprs267606970
PheGenIrs267606970
hapmaprs267606970
1000 genomesrs267606970
hgdprs267606970
ensemblrs267606970
gopubmedrs267606970
geneviewrs267606970
scholarrs267606970
googlers267606970
pharmgkbrs267606970
gwascentralrs267606970
openSNPrs267606970
23andMers267606970
23andMe allrs267606970
SNP Nexus

SNPshotrs267606970
SNPdbers267606970
MSV3drs267606970
GWAS Ctlgrs267606970
Max Magnitude0
ClinVar
Risk rs267606970(A;A)
Alt rs267606970(A;A)
Reference rs267606970(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
Reversed 1
HGVS NC_000014.8:g.77762566C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003387.3, RCV000030875.3,