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 14674 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2009 2009
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 0
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
6 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 0