RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs29001566
rs29001566
0.807 0.080 3 129533711 missense variant C/A;G;T snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
Eye Diseases 0.700 0
dbSNP: rs104893789
rs104893789
0.882 0.080 3 129532711 missense variant C/A snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
Eye Diseases 0.020 0.500 2 1994 2003
dbSNP: rs104893796
rs104893796
0.851 0.080 3 129529014 missense variant C/T snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
Eye Diseases 0.020 0.500 2 2003 2003
dbSNP: rs104893797
rs104893797
0.882 0.080 3 129528800 missense variant C/G snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
Eye Diseases 0.010 1.000 1 2000 2000