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rs387906957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906957(A;G)
Make rs387906957(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position41394860
GeneNDUFAF1
is asnp
is mentioned by
dbSNPrs387906957
ebirs387906957
HLIrs387906957
Exacrs387906957
Varsomers387906957
Maprs387906957
PheGenIrs387906957
hapmaprs387906957
1000 genomesrs387906957
hgdprs387906957
ensemblrs387906957
gopubmedrs387906957
geneviewrs387906957
scholarrs387906957
googlers387906957
pharmgkbrs387906957
gwascentralrs387906957
openSNPrs387906957
23andMers387906957
23andMe allrs387906957
SNP Nexus

SNPshotrs387906957
SNPdbers387906957
MSV3drs387906957
GWAS Ctlgrs387906957
Max Magnitude0
ClinVar
Risk rs387906957(G;G)
Alt rs387906957(G;G)
Reference rs387906957(A;A)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF1
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000015.9:g.41687058T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023598.3,