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rs121912639

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912639(C;T)
Make rs121912639(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68033165
GeneNDUFS8
is asnp
is mentioned by
dbSNPrs121912639
ebirs121912639
HLIrs121912639
Exacrs121912639
Varsomers121912639
Maprs121912639
PheGenIrs121912639
hapmaprs121912639
1000 genomesrs121912639
hgdprs121912639
ensemblrs121912639
gopubmedrs121912639
geneviewrs121912639
scholarrs121912639
googlers121912639
pharmgkbrs121912639
gwascentralrs121912639
openSNPrs121912639
23andMers121912639
23andMe allrs121912639
SNP Nexus

SNPshotrs121912639
SNPdbers121912639
MSV3drs121912639
GWAS Ctlgrs121912639
Max Magnitude0
ClinVar
Risk rs121912639(T;T)
Alt rs121912639(T;T)
Reference rs121912639(C;C)
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.67800632C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007943.3,