rs29001566, RHO

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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.740 0.800 5 1990 2019
Blurred vision
CUI: C0344232
Disease: Blurred vision
2 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.700 0
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
18 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.700 0
Peripheral visual field loss
CUI: C0241688
Disease: Peripheral visual field loss
4 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.700 0
Retinitis Pigmentosa 4
CUI: C3151001
Disease: Retinitis Pigmentosa 4
44 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.700 0
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.040 1.000 4 1991 2015
Atrophic condition of skin
CUI: C0151514
Disease: Atrophic condition of skin
4 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
Macular Edema, Cystoid
CUI: C0024440
Disease: Macular Edema, Cystoid
3 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
Photoreceptor degeneration
CUI: C1998028
Disease: Photoreceptor degeneration
16 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
Refractive Errors
CUI: C0034951
Disease: Refractive Errors
75 0.807 0.080 3 129533711 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002