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.
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.925 0.200 MT 14453 missense variant G/A snv 0.800 1.000 1 2001 2001
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.200 MT 14453 missense variant G/A snv 0.700 1.000 1 2001 2001