rs104893768, RHO

N. diseases: 8
Source: BEFREE ×
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.
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
146 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
54 0.807 0.080 3 129528801 missense variant C/A snv 0.020 1.000 2 2012 2017
Blindness
CUI: C0456909
Disease: Blindness
16 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
15 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