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.
LATE-ONSET RETINAL DEGENERATION (disorder)
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
3 0.827 0.200 11 119339574 missense variant G/C snv 0.850 1.000 6 2003 2018
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.827 0.200 11 119339574 missense variant G/C snv 0.020 1.000 2 2005 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.827 0.200 11 119339574 missense variant G/C snv 0.010 1.000 1 2018 2018
X-linked retinitis pigmentosa
CUI: C0339528
Disease: X-linked retinitis pigmentosa
7 0.827 0.200 11 119339574 missense variant G/C snv 0.010 1.000 1 2015 2015