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rs121434454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 3 mitochondrial myopathy; severe exercise intolerance
Make rs121434454(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7526
GeneOR6C3
is asnp
is mentioned by
dbSNPrs121434454
ebirs121434454
HLIrs121434454
Exacrs121434454
Varsomers121434454
Maprs121434454
PheGenIrs121434454
hapmaprs121434454
1000 genomesrs121434454
hgdprs121434454
ensemblrs121434454
gopubmedrs121434454
geneviewrs121434454
scholarrs121434454
googlers121434454
pharmgkbrs121434454
gwascentralrs121434454
openSNPrs121434454
23andMers121434454
23andMe allrs121434454
SNP Nexus

SNPshotrs121434454
SNPdbers121434454
MSV3drs121434454
GWAS Ctlgrs121434454
Max Magnitude3
ClinVar
Risk rs121434454(G;G)
Alt rs121434454(G;G)
Reference rs121434454(A;A)
Significance Pathogenic
Disease Mitochondrial myopathy
Variation info
Gene
CLNDBN Mitochondrial myopathy, isolated
Reversed 0
HGVS NC_012920.1:m.7526A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010244.2,