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rs267606972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606972(A;A)
Make rs267606972(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77302898
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606972
ebirs267606972
HLIrs267606972
Exacrs267606972
Varsomers267606972
Maprs267606972
PheGenIrs267606972
hapmaprs267606972
1000 genomesrs267606972
hgdprs267606972
ensemblrs267606972
gopubmedrs267606972
geneviewrs267606972
scholarrs267606972
googlers267606972
pharmgkbrs267606972
gwascentralrs267606972
openSNPrs267606972
23andMers267606972
23andMe allrs267606972
SNP Nexus

SNPshotrs267606972
SNPdbers267606972
MSV3drs267606972
GWAS Ctlgrs267606972
Max Magnitude0
ClinVar
Risk rs267606972(A;A)
Alt rs267606972(A;A)
Reference rs267606972(T;T)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Reversed 1
HGVS NC_000014.8:g.77769241A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003383.3,