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 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 1.000 1 1998 1998
Mitochondrial Myopathies
CUI: C0162670
Disease: Mitochondrial Myopathies
19 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 0