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rs199474817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474817(C;C)
Make rs199474817(C;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position7512
GeneACTR6
is asnp
is mentioned by
dbSNPrs199474817
ebirs199474817
HLIrs199474817
Exacrs199474817
Varsomers199474817
Maprs199474817
PheGenIrs199474817
hapmaprs199474817
1000 genomesrs199474817
hgdprs199474817
ensemblrs199474817
gopubmedrs199474817
geneviewrs199474817
scholarrs199474817
googlers199474817
pharmgkbrs199474817
gwascentralrs199474817
openSNPrs199474817
23andMers199474817
23andMe allrs199474817
SNP Nexus

SNPshotrs199474817
SNPdbers199474817
MSV3drs199474817
GWAS Ctlgrs199474817
Max Magnitude0
ClinVar
Risk rs199474817(C;C)
Alt rs199474817(C;C)
Reference rs199474817(T;T)
Significance Pathogenic
Disease MERRF/MELAS overlap syndrome Mitochondrial cytochrome c oxidase deficiency
Variation info
Gene
CLNDBN MERRF/MELAS overlap syndrome Mitochondrial cytochrome c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.7512T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010174.4, RCV000010175.4,