Source: CURATED ×
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.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
89 0.882 0.200 MT 3946 missense variant G/A snv 0.700 1.000 4 2004 2011
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
48 0.882 0.200 MT 3946 missense variant G/A snv 0.700 0