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.
MERRF Syndrome
CUI: C0162672
Disease: MERRF Syndrome
13 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 8 2003 2009
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 2 1991 1993
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 1 1991 1991
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 0
PARKINSON DISEASE, MITOCHONDRIAL (disorder)
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
2 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 0