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 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
Diabetes-deafness syndrome maternally transmitted (disorder)
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
5 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 0
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
CUI: C4016608
Disease: MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
1 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 0