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rs267606968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606968(G;T)
Make rs267606968(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77285520
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606968
ebirs267606968
HLIrs267606968
Exacrs267606968
Varsomers267606968
Maprs267606968
PheGenIrs267606968
hapmaprs267606968
1000 genomesrs267606968
hgdprs267606968
ensemblrs267606968
gopubmedrs267606968
geneviewrs267606968
scholarrs267606968
googlers267606968
pharmgkbrs267606968
gwascentralrs267606968
openSNPrs267606968
23andMers267606968
23andMe allrs267606968
SNP Nexus

SNPshotrs267606968
SNPdbers267606968
MSV3drs267606968
GWAS Ctlgrs267606968
Max Magnitude0
ClinVar
Risk rs267606968(T;T)
Alt rs267606968(T;T)
Reference rs267606968(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.77751863C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003392.4,