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 12147 non coding transcript exon variant G/A snv 0.700 1.000 2 2004 2004
MERRF/MELAS OVERLAP SYNDROME
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
5 0.925 0.200 MT 12147 non coding transcript exon variant G/A snv 0.700 0