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rs121434464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434464(C;C)
Make rs121434464(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12297
GenePDIA5
is asnp
is mentioned by
dbSNPrs121434464
ebirs121434464
HLIrs121434464
Exacrs121434464
Varsomers121434464
Maprs121434464
PheGenIrs121434464
hapmaprs121434464
1000 genomesrs121434464
hgdprs121434464
ensemblrs121434464
gopubmedrs121434464
geneviewrs121434464
scholarrs121434464
googlers121434464
pharmgkbrs121434464
gwascentralrs121434464
openSNPrs121434464
23andMers121434464
23andMe allrs121434464
SNP Nexus

SNPshotrs121434464
SNPdbers121434464
MSV3drs121434464
GWAS Ctlgrs121434464
Max Magnitude0
ClinVar
Risk rs121434464(C;C)
Alt rs121434464(C;C)
Reference rs121434464(T;T)
Significance Pathogenic
Disease Cardiomyopathy
Variation info
Gene
CLNDBN Cardiomyopathy, mitochondrial
Reversed 0
HGVS NC_012920.1:m.12297T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010205.2,