rs28939714, NDUFS3

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 8
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
3 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.800 1.000 3 2004 2018
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013