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rs121912638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912638(A;A)
Make rs121912638(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68033216
GeneNDUFS8
is asnp
is mentioned by
dbSNPrs121912638
ebirs121912638
HLIrs121912638
Exacrs121912638
Varsomers121912638
Maprs121912638
PheGenIrs121912638
hapmaprs121912638
1000 genomesrs121912638
hgdprs121912638
ensemblrs121912638
gopubmedrs121912638
geneviewrs121912638
scholarrs121912638
googlers121912638
pharmgkbrs121912638
gwascentralrs121912638
openSNPrs121912638
23andMers121912638
23andMe allrs121912638
SNP Nexus

SNPshotrs121912638
SNPdbers121912638
MSV3drs121912638
GWAS Ctlgrs121912638
Max Magnitude0
ClinVar
Risk rs121912638(A;A)
Alt rs121912638(A;A)
Reference rs121912638(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene MIR7113 MIR4691 NDUFS8
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67800683G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007942.3,