rs142609245, NDUFB3

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
2 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.800 1.000 2 2012 2016
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.700 0
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
4 0.882 0.040 2 201078946 missense variant T/C snv 8.5E-04 1.1E-03 0.010 1.000 1 2016 2016