rs1195312059, ERG

N. diseases: 3
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.
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018