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rs121434464

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1 Reported as benign in ClinVar
(T;T) 0 common in clinvar
Make rs121434464(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position12297
is asnp
is mentioned by
dbSNPrs121434464
dbSNP (classic)rs121434464
ClinGenrs121434464
ebirs121434464
HLIrs121434464
Exacrs121434464
Gnomadrs121434464
Varsomers121434464
LitVarrs121434464
Maprs121434464
PheGenIrs121434464
Biobankrs121434464
1000 genomesrs121434464
hgdprs121434464
ensemblrs121434464
geneviewrs121434464
scholarrs121434464
googlers121434464
pharmgkbrs121434464
gwascentralrs121434464
openSNPrs121434464
23andMers121434464
SNPshotrs121434464
SNPdbers121434464
MSV3drs121434464
GWAS Ctlgrs121434464
Max Magnitude1
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,