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rs199648872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199648872(G;T)
Make rs199648872(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position239961189
GeneNDUFA10
is asnp
is mentioned by
dbSNPrs199648872
dbSNP (classic)rs199648872
ClinGenrs199648872
ebirs199648872
HLIrs199648872
Exacrs199648872
Gnomadrs199648872
Varsomers199648872
LitVarrs199648872
Maprs199648872
PheGenIrs199648872
Biobankrs199648872
1000 genomesrs199648872
hgdprs199648872
ensemblrs199648872
geneviewrs199648872
scholarrs199648872
googlers199648872
pharmgkbrs199648872
gwascentralrs199648872
openSNPrs199648872
23andMers199648872
SNPshotrs199648872
SNPdbers199648872
MSV3drs199648872
GWAS Ctlgrs199648872
Max Magnitude0
ClinVar
Risk rs199648872(C;C) rs199648872(T;T)
Alt rs199648872(C;C) rs199648872(T;T)
Reference Rs199648872(G;G)
Significance Probable-Pathogenic
Disease not provided Mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene NDUFA10
CLNDBN not provided Mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_000002.11:g.240900606G>C
CLNSRC
CLNACC RCV000199808.2, RCV000333603.1, RCV000388170.1,