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.
Vitelliform Macular Dystrophy
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
120 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.810 1.000 19 1998 2015
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
Pseudohypopyon
CUI: C4068898
Disease: Pseudohypopyon
1 0.882 0.080 11 61957403 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2015 2015