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rs121434475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434475(C;C)
Make rs121434475(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position9997
GeneOR11M1P
is asnp
is mentioned by
dbSNPrs121434475
ebirs121434475
HLIrs121434475
Exacrs121434475
Varsomers121434475
Maprs121434475
PheGenIrs121434475
hapmaprs121434475
1000 genomesrs121434475
hgdprs121434475
ensemblrs121434475
gopubmedrs121434475
geneviewrs121434475
scholarrs121434475
googlers121434475
pharmgkbrs121434475
gwascentralrs121434475
openSNPrs121434475
23andMers121434475
23andMe allrs121434475
SNP Nexus

SNPshotrs121434475
SNPdbers121434475
MSV3drs121434475
GWAS Ctlgrs121434475
Max Magnitude0
ClinVar
Risk rs121434475(C;C)
Alt rs121434475(C;C)
Reference rs121434475(T;T)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_012920.1:m.9997T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010235.4,