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.
Blindness
CUI: C0456909
Disease: Blindness
34 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
Optic Disk Drusen
CUI: C0029128
Disease: Optic Disk Drusen
3 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0
Retinal pigment epithelial atrophy
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
4 0.882 0.080 2 55870851 missense variant A/G snv 0.700 0