rs61755783, PRPH2

N. diseases: 11
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.
Progressive cone dystrophy (without rod involvement)
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
6 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 1.000 1 2019 2019
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
5 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
Disorder of macula of retina
CUI: C0730362
Disease: Disorder of macula of retina
24 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
22 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 0
Central areolar choroidal sclerosis
CUI: C1536451
Disease: Central areolar choroidal sclerosis
5 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.030 1.000 3 2002 2018
Abnormal macular morphology
CUI: C4520679
Disease: Abnormal macular morphology
3 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 1996 1996
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 2009 2009
Chorioretinal atrophy
CUI: C4048273
Disease: Chorioretinal atrophy
4 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 1996 1996
Dominant drusen
CUI: C0339513
Disease: Dominant drusen
2 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 2002 2002
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
81 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 2009 2009