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.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 2000 2000
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 1996 1996
CARDIOMYOPATHY AND DEAFNESS
CUI: C4016620
Disease: CARDIOMYOPATHY AND DEAFNESS
1 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 0
MERRF Syndrome
CUI: C0162672
Disease: MERRF Syndrome
13 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 0