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, MITOCHONDRIAL TYPE 1
3 0.925 0.120 MT 10158 missense variant T/C snv 0.800 1.000 3 2001 2010
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.120 MT 10158 missense variant T/C snv 0.700 1.000 4 2003 2005