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rs387906958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906958(C;T)
Make rs387906958(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position41394987
GeneNDUFAF1
is asnp
is mentioned by
dbSNPrs387906958
ebirs387906958
HLIrs387906958
Exacrs387906958
Varsomers387906958
Maprs387906958
PheGenIrs387906958
hapmaprs387906958
1000 genomesrs387906958
hgdprs387906958
ensemblrs387906958
gopubmedrs387906958
geneviewrs387906958
scholarrs387906958
googlers387906958
pharmgkbrs387906958
gwascentralrs387906958
openSNPrs387906958
23andMers387906958
23andMe allrs387906958
SNP Nexus

SNPshotrs387906958
SNPdbers387906958
MSV3drs387906958
GWAS Ctlgrs387906958
Max Magnitude0
ClinVar
Risk rs387906958(T;T)
Alt rs387906958(T;T)
Reference rs387906958(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000015.9:g.41687185G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023599.2,