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rs1057519073

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519073(A;A)
Make rs1057519073(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position47142418
GeneNDUFB11
is asnp
is mentioned by
dbSNPrs1057519073
dbSNP (old)rs1057519073
ClinGenrs1057519073
ebirs1057519073
HLIrs1057519073
Exacrs1057519073
Gnomadrs1057519073
Varsomers1057519073
Maprs1057519073
PheGenIrs1057519073
Biobankrs1057519073
1000 genomesrs1057519073
hgdprs1057519073
ensemblrs1057519073
gopubmedrs1057519073
geneviewrs1057519073
scholarrs1057519073
googlers1057519073
pharmgkbrs1057519073
gwascentralrs1057519073
openSNPrs1057519073
23andMers1057519073
23andMe allrs1057519073
SNPshotrs1057519073
SNPdbers1057519073
MSV3drs1057519073
GWAS Ctlgrs1057519073
Max Magnitude0
ClinVar
Risk rs1057519073(A;A)
Alt rs1057519073(A;A)
Reference Rs1057519073(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not provided
Variation info
Gene NDUFB11
CLNDBN Mitochondrial complex I deficiency not provided
Reversed 1
HGVS NC_000023.10:g.47001817C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000412600.1, RCV000487272.1,