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rs267606969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606969(A;A)
Make rs267606969(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77277452
GenePOMT2
is asnp
is mentioned by
dbSNPrs267606969
ebirs267606969
HLIrs267606969
Exacrs267606969
Varsomers267606969
Maprs267606969
PheGenIrs267606969
hapmaprs267606969
1000 genomesrs267606969
hgdprs267606969
ensemblrs267606969
gopubmedrs267606969
geneviewrs267606969
scholarrs267606969
googlers267606969
pharmgkbrs267606969
gwascentralrs267606969
openSNPrs267606969
23andMers267606969
23andMe allrs267606969
SNP Nexus

SNPshotrs267606969
SNPdbers267606969
MSV3drs267606969
GWAS Ctlgrs267606969
Max Magnitude0
ClinVar
Risk rs267606969(A;A)
Alt rs267606969(A;A)
Reference rs267606969(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMT2
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
Reversed 1
HGVS NC_000014.8:g.77743795C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003378.4, RCV000030874.3,