rs104893775, RHO

N. diseases: 7
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 0.160 3 129530917 missense variant C/T snv 0.800 1.000 20 1990 2009
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.807 0.160 3 129530917 missense variant C/T snv 0.730 1.000 4 2006 2019
Retinitis punctata albescens (disorder)
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
10 0.807 0.160 3 129530917 missense variant C/T snv 0.710 1.000 1 1996 1996
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.807 0.160 3 129530917 missense variant C/T snv 0.020 1.000 2 1996 2008
Acute angle-closure glaucoma
CUI: C0154946
Disease: Acute angle-closure glaucoma
1 0.807 0.160 3 129530917 missense variant C/T snv 0.010 1.000 1 2019 2019
Bilateral nanophthalmos
CUI: C4280422
Disease: Bilateral nanophthalmos
1 0.807 0.160 3 129530917 missense variant C/T snv 0.010 1.000 1 2019 2019
Refractive Errors
CUI: C0034951
Disease: Refractive Errors
75 0.807 0.160 3 129530917 missense variant C/T snv 0.010 1.000 1 2019 2019