rs104893768, RHO

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.
Retinitis Pigmentosa 4
CUI: C3151001
Disease: Retinitis Pigmentosa 4
44 0.807 0.080 3 129528801 missense variant C/A snv 0.800 1.000 20 1990 2009
Fundus Albipunctatus
CUI: C0311338
Disease: Fundus Albipunctatus
21 0.807 0.080 3 129528801 missense variant C/A snv 0.700 0
Night Blindness, Congenital Stationary, Autosomal Dominant 1
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
5 0.807 0.080 3 129528801 missense variant C/A snv 0.700 0
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.807 0.080 3 129528801 missense variant C/A snv 0.100 1.000 22 1991 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.080 3 129528801 missense variant C/A snv 0.100 0.950 20 1992 2019
Photoreceptor degeneration
CUI: C1998028
Disease: Photoreceptor degeneration
16 0.807 0.080 3 129528801 missense variant C/A snv 0.080 1.000 8 1992 2018
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2002 2014
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
56 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
Blindness
CUI: C0456909
Disease: Blindness
34 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2018 2018
Refractive Errors
CUI: C0034951
Disease: Refractive Errors
75 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2002 2002
Unspecified visual loss
CUI: C3665346
Disease: Unspecified visual loss
11 0.807 0.080 3 129528801 missense variant C/A snv 0.010 1.000 1 2018 2018