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 3242 non coding transcript exon variant G/A snv 0.700 1.000 3 2005 2012
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 1.000 0.200 MT 3242 non coding transcript exon variant G/A snv 0.700 0