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 2
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
7 0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 0.800 1.000 3 1998 2012
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 0.700 0