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rs121434462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434462(A;A)
Make rs121434462(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position12315
is asnp
is mentioned by
dbSNPrs121434462
dbSNP (classic)rs121434462
ClinGenrs121434462
ebirs121434462
HLIrs121434462
Exacrs121434462
Gnomadrs121434462
Varsomers121434462
LitVarrs121434462
Maprs121434462
PheGenIrs121434462
Biobankrs121434462
1000 genomesrs121434462
hgdprs121434462
ensemblrs121434462
geneviewrs121434462
scholarrs121434462
googlers121434462
pharmgkbrs121434462
gwascentralrs121434462
openSNPrs121434462
23andMers121434462
SNPshotrs121434462
SNPdbers121434462
MSV3drs121434462
GWAS Ctlgrs121434462
Max Magnitude0
ClinVar
Risk rs121434462(A;A)
Alt rs121434462(A;A)
Reference Rs121434462(G;G)
Significance Pathogenic
Disease Mitochondrial encephalomyopathy
Variation info
Gene
CLNDBN Mitochondrial encephalomyopathy
Reversed 0
HGVS NC_012920.1:m.12315G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010203.4,