rs142285818, 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.
Abnormality of retinal pigmentation
CUI: C1862475
Disease: Abnormality of retinal pigmentation
5 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Blindness
CUI: C0456909
Disease: Blindness
34 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Cataract
CUI: C0086543
Disease: Cataract
124 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Exudative retinopathy
CUI: C0154832
Disease: Exudative retinopathy
6 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Monocular strabismus
CUI: C4023678
Disease: Monocular strabismus
2 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Optic Disk Drusen
CUI: C0029128
Disease: Optic Disk Drusen
3 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Retinal Detachment
CUI: C0035305
Disease: Retinal Detachment
10 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
Retinal exudates
CUI: C0240897
Disease: Retinal exudates
1 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0