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.
DOYNE HONEYCOMB RETINAL DYSTROPHY
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
1 0.752 0.200 2 55871091 missense variant G/A snv 0.870 0.800 10 1999 2014
Malattia Leventinese
CUI: C1852020
Disease: Malattia Leventinese
1 0.752 0.200 2 55871091 missense variant G/A snv 0.800 0.800 10 2001 2019
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.752 0.200 2 55871091 missense variant G/A snv 0.090 0.889 9 2002 2019
Drusen
CUI: C1260959
Disease: Drusen
18 0.752 0.200 2 55871091 missense variant G/A snv 0.070 0.714 7 2001 2014
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.752 0.200 2 55871091 missense variant G/A snv 0.050 1.000 5 2001 2016
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.752 0.200 2 55871091 missense variant G/A snv 0.040 1.000 4 2011 2016
Dominant drusen
CUI: C0339513
Disease: Dominant drusen
2 0.752 0.200 2 55871091 missense variant G/A snv 0.030 1.000 3 2001 2013
MACULAR DEGENERATION, EARLY-ONSET
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
3 0.752 0.200 2 55871091 missense variant G/A snv 0.020 1.000 2 2007 2018
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2007 2007
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2017 2017
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2016 2016
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2010 2010
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
11 0.752 0.200 2 55871091 missense variant G/A snv 0.010 1.000 1 2006 2006