rs527236100, RHO

N. diseases: 4
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 0.851 0.080 3 129532282 missense variant G/A snv 0.700 0
Retinitis Pigmentosa 4
CUI: C3151001
Disease: Retinitis Pigmentosa 4
44 0.851 0.080 3 129532282 missense variant G/A snv 0.700 0
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.851 0.080 3 129532282 missense variant G/A snv 0.030 1.000 3 1996 2015
Photoreceptor degeneration
CUI: C1998028
Disease: Photoreceptor degeneration
16 0.851 0.080 3 129532282 missense variant G/A snv 0.010 1.000 1 2000 2000