rs387907199, NDUFS1

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 5
CUI: C4748754
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
9 0.882 0.040 2 206127898 missense variant T/C snv 4.0E-06 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 206127898 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
Progressive cavitating leukoencephalopathy
CUI: C4304840
Disease: Progressive cavitating leukoencephalopathy
1 0.882 0.040 2 206127898 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011