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rs387906873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906873(A;G)
Make rs387906873(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position240021232
GeneNDUFA10
is asnp
is mentioned by
dbSNPrs387906873
ebirs387906873
HLIrs387906873
Exacrs387906873
Varsomers387906873
Maprs387906873
PheGenIrs387906873
hapmaprs387906873
1000 genomesrs387906873
hgdprs387906873
ensemblrs387906873
gopubmedrs387906873
geneviewrs387906873
scholarrs387906873
googlers387906873
pharmgkbrs387906873
gwascentralrs387906873
openSNPrs387906873
23andMers387906873
23andMe allrs387906873
SNP Nexus

SNPshotrs387906873
SNPdbers387906873
MSV3drs387906873
GWAS Ctlgrs387906873
Max Magnitude0
ClinVar
Risk rs387906873(G;G)
Alt rs387906873(G;G)
Reference rs387906873(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.240960649T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023346.3,