RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Night blindness, congenital stationary ×
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: rs104893790
rs104893790 		0.851 0.080 3 129529002 missense variant G/A snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 1994 2016
dbSNP: rs104893796
rs104893796 		0.851 0.080 3 129529014 missense variant C/T snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 1999 2016
dbSNP: rs104893789
rs104893789 		0.882 0.080 3 129532711 missense variant C/A snv
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1993 1993