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rs387906872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906872(A;G)
Make rs387906872(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240025301
GeneNDUFA10
is asnp
is mentioned by
dbSNPrs387906872
ebirs387906872
HLIrs387906872
Exacrs387906872
Varsomers387906872
Maprs387906872
PheGenIrs387906872
hapmaprs387906872
1000 genomesrs387906872
hgdprs387906872
ensemblrs387906872
gopubmedrs387906872
geneviewrs387906872
scholarrs387906872
googlers387906872
pharmgkbrs387906872
gwascentralrs387906872
openSNPrs387906872
23andMers387906872
23andMe allrs387906872
SNP Nexus

SNPshotrs387906872
SNPdbers387906872
MSV3drs387906872
GWAS Ctlgrs387906872
Max Magnitude0
ClinVar
Risk rs387906872(G;G)
Alt rs387906872(G;G)
Reference rs387906872(A;A)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFA10
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.240964718T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023345.3,