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
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
3 0.882 0.200 MT 10197 missense variant G/A snv 0.800 1.000 3 2001 2010
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.200 MT 10197 missense variant G/A snv 0.800 1.000 2 2007 2009
LEBER OPTIC ATROPHY AND DYSTONIA
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
5 0.882 0.200 MT 10197 missense variant G/A snv 0.700 0