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rs267606965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606965(G;T)
Make rs267606965(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77291380
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606965
ebirs267606965
HLIrs267606965
Exacrs267606965
Varsomers267606965
Maprs267606965
PheGenIrs267606965
hapmaprs267606965
1000 genomesrs267606965
hgdprs267606965
ensemblrs267606965
gopubmedrs267606965
geneviewrs267606965
scholarrs267606965
googlers267606965
pharmgkbrs267606965
gwascentralrs267606965
openSNPrs267606965
23andMers267606965
23andMe allrs267606965
SNP Nexus

SNPshotrs267606965
SNPdbers267606965
MSV3drs267606965
GWAS Ctlgrs267606965
Max Magnitude0
ClinVar
Risk rs267606965(T;T)
Alt rs267606965(T;T)
Reference rs267606965(G;G)
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.77757723C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003382.3,