rs757043077, NDUFAF5

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 16
CUI: C4748785
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
3 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.800 1.000 3 2008 2012
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.700 1.000 1 2012 2012
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.120 20 13808873 missense variant G/T snv 4.0E-06; 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012