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rs397514617

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514617(A;A)
Make rs397514617(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position68036356
GeneNDUFS8
is asnp
is mentioned by
dbSNPrs397514617
ebirs397514617
HLIrs397514617
Exacrs397514617
Varsomers397514617
Maprs397514617
PheGenIrs397514617
hapmaprs397514617
1000 genomesrs397514617
hgdprs397514617
ensemblrs397514617
gopubmedrs397514617
geneviewrs397514617
scholarrs397514617
googlers397514617
pharmgkbrs397514617
gwascentralrs397514617
openSNPrs397514617
23andMers397514617
23andMe allrs397514617
SNP Nexus

SNPshotrs397514617
SNPdbers397514617
MSV3drs397514617
GWAS Ctlgrs397514617
Max Magnitude0
ClinVar
Risk rs397514617(A;A)
Alt rs397514617(A;A)
Reference rs397514617(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFS8
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67803823C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033055.3,