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rs121434467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434467(A;G)
Make rs121434467(G;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position4295
GeneADAM11
is asnp
is mentioned by
dbSNPrs121434467
ebirs121434467
HLIrs121434467
Exacrs121434467
Varsomers121434467
Maprs121434467
PheGenIrs121434467
hapmaprs121434467
1000 genomesrs121434467
hgdprs121434467
ensemblrs121434467
gopubmedrs121434467
geneviewrs121434467
scholarrs121434467
googlers121434467
pharmgkbrs121434467
gwascentralrs121434467
openSNPrs121434467
23andMers121434467
23andMe allrs121434467
SNP Nexus

SNPshotrs121434467
SNPdbers121434467
MSV3drs121434467
GWAS Ctlgrs121434467
GMAF0.001871
Max Magnitude0
ClinVar
Risk rs121434467(G;G)
Alt rs121434467(G;G)
Reference rs121434467(A;A)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Deafness not specified not provided
Variation info
Gene
CLNDBN Primary familial hypertrophic cardiomyopathy Deafness, nonsyndromic sensorineural, mitochondrial not specified not provided
Reversed 0
HGVS NC_012920.1:m.4295A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010226.2, RCV000022900.2, RCV000223744.1, RCV000224071.1,