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rs387906956

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906956(A;C)
Make rs387906956(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position41394999
GeneNDUFAF1
is asnp
is mentioned by
dbSNPrs387906956
ebirs387906956
HLIrs387906956
Exacrs387906956
Varsomers387906956
Maprs387906956
PheGenIrs387906956
hapmaprs387906956
1000 genomesrs387906956
hgdprs387906956
ensemblrs387906956
gopubmedrs387906956
geneviewrs387906956
scholarrs387906956
googlers387906956
pharmgkbrs387906956
gwascentralrs387906956
openSNPrs387906956
23andMers387906956
23andMe allrs387906956
SNP Nexus

SNPshotrs387906956
SNPdbers387906956
MSV3drs387906956
GWAS Ctlgrs387906956
Max Magnitude0
ClinVar
Risk rs387906956(C;C)
Alt rs387906956(C;C)
Reference rs387906956(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.41687197T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023597.2,