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.
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
46 0.882 0.280 MT 13708 missense variant G/A snv 0.700 1.000 4 1991 2005
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
91 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2009 2009