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rs121434458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434458(A;A)
Make rs121434458(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5591
GeneSKA1
is asnp
is mentioned by
dbSNPrs121434458
ebirs121434458
HLIrs121434458
Exacrs121434458
Varsomers121434458
Maprs121434458
PheGenIrs121434458
hapmaprs121434458
1000 genomesrs121434458
hgdprs121434458
ensemblrs121434458
gopubmedrs121434458
geneviewrs121434458
scholarrs121434458
googlers121434458
pharmgkbrs121434458
gwascentralrs121434458
openSNPrs121434458
23andMers121434458
23andMe allrs121434458
SNP Nexus

SNPshotrs121434458
SNPdbers121434458
MSV3drs121434458
GWAS Ctlgrs121434458
Max Magnitude0
ClinVar
Risk rs121434458(A;A)
Alt rs121434458(A;A)
Reference rs121434458(G;G)
Significance Pathogenic
Disease Mitochondrial myopathy
Variation info
Gene
CLNDBN Mitochondrial myopathy
Reversed 0
HGVS NC_012920.1:m.5591G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010251.2,