rs61755792, PRPH2

N. diseases: 10
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.
MACULAR DYSTROPHY, PATTERNED, 1
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
16 0.763 0.160 6 42721821 missense variant G/A;C snv 0.700 0
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.763 0.160 6 42721821 missense variant G/A;C snv 0.040 1.000 4 1995 2014
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1995 2009
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1995 2009
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.763 0.160 6 42721821 missense variant G/A;C snv 0.710 1.000 1 1996 1996
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.763 0.160 6 42721821 missense variant G/A;C snv 0.020 1.000 2 1998 2014
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.763 0.160 6 42721821 missense variant G/A;C snv 0.010 1.000 1 1998 1998
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
5 0.763 0.160 6 42721821 missense variant G/A;C snv 0.710 1.000 1 2005 2005
Chorioretinal atrophy
CUI: C4048273
Disease: Chorioretinal atrophy
4 0.763 0.160 6 42721821 missense variant G/A;C snv 0.010 1.000 1 2009 2009
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.763 0.160 6 42721821 missense variant G/A;C snv 0.010 1.000 1 2009 2009