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rs121434463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434463(A;G)
Make rs121434463(G;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position12320
GenePDIA5
is asnp
is mentioned by
dbSNPrs121434463
ebirs121434463
HLIrs121434463
Exacrs121434463
Varsomers121434463
Maprs121434463
PheGenIrs121434463
hapmaprs121434463
1000 genomesrs121434463
hgdprs121434463
ensemblrs121434463
gopubmedrs121434463
geneviewrs121434463
scholarrs121434463
googlers121434463
pharmgkbrs121434463
gwascentralrs121434463
openSNPrs121434463
23andMers121434463
23andMe allrs121434463
SNP Nexus

SNPshotrs121434463
SNPdbers121434463
MSV3drs121434463
GWAS Ctlgrs121434463
Max Magnitude0
ClinVar
Risk rs121434463(G;G)
Alt rs121434463(G;G)
Reference rs121434463(A;A)
Significance Pathogenic
Disease Mitochondrial myopathy
Variation info
Gene
CLNDBN Mitochondrial myopathy
Reversed 0
HGVS NC_012920.1:m.12320A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010204.2,