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rs387907139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907139(C;T)
Make rs387907139(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position94994249
GeneNDUFA12
is asnp
is mentioned by
dbSNPrs387907139
ebirs387907139
HLIrs387907139
Exacrs387907139
Varsomers387907139
Maprs387907139
PheGenIrs387907139
hapmaprs387907139
1000 genomesrs387907139
hgdprs387907139
ensemblrs387907139
gopubmedrs387907139
geneviewrs387907139
scholarrs387907139
googlers387907139
pharmgkbrs387907139
gwascentralrs387907139
openSNPrs387907139
23andMers387907139
23andMe allrs387907139
SNP Nexus

SNPshotrs387907139
SNPdbers387907139
MSV3drs387907139
GWAS Ctlgrs387907139
Max Magnitude0
ClinVar
Risk rs387907139(G,T;G,T)
Alt rs387907139(G,T;G,T)
Reference rs387907139(C;C)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFA12
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 1
HGVS NC_000012.11:g.95388025G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024206.2,