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rs1057519415

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519415(-;AAT)
Make rs1057519415(AAT;AAT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position240021272
GeneNDUFA10
is asnp
is mentioned by
dbSNPrs1057519415
dbSNP (old)rs1057519415
ClinGenrs1057519415
ebirs1057519415
HLIrs1057519415
Exacrs1057519415
Gnomadrs1057519415
Varsomers1057519415
LitVarrs1057519415
Maprs1057519415
PheGenIrs1057519415
Biobankrs1057519415
1000 genomesrs1057519415
hgdprs1057519415
ensemblrs1057519415
gopubmedrs1057519415
geneviewrs1057519415
scholarrs1057519415
googlers1057519415
pharmgkbrs1057519415
gwascentralrs1057519415
openSNPrs1057519415
23andMers1057519415
23andMe allrs1057519415
SNPshotrs1057519415
SNPdbers1057519415
MSV3drs1057519415
GWAS Ctlgrs1057519415
Max Magnitude0
ClinVar
Risk rs1057519415(AAT;AAT)
Alt rs1057519415(AAT;AAT)
Reference Rs1057519415(-;-)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFA10
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000002.11:g.240960689_240960690insATT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412484.1,