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rs111033588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033588(A;A)
Make rs111033588(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position68036293
GeneNDUFS8
is asnp
is mentioned by
dbSNPrs111033588
dbSNP (classic)rs111033588
ClinGenrs111033588
ebirs111033588
HLIrs111033588
Exacrs111033588
Gnomadrs111033588
Varsomers111033588
LitVarrs111033588
Maprs111033588
PheGenIrs111033588
Biobankrs111033588
1000 genomesrs111033588
hgdprs111033588
ensemblrs111033588
geneviewrs111033588
scholarrs111033588
googlers111033588
pharmgkbrs111033588
gwascentralrs111033588
openSNPrs111033588
23andMers111033588
SNPshotrs111033588
SNPdbers111033588
MSV3drs111033588
GWAS Ctlgrs111033588
Merged fromRs121912640
Max Magnitude0
ClinVar
Risk rs111033588(A;A)
Alt rs111033588(A;A)
Reference Rs111033588(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS8
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67803760G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007944.4,