RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1 ×
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: rs104893789
rs104893789 		0.882 0.080 3 129532711 missense variant C/A snv
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 1993 1999
dbSNP: rs104893790
rs104893790 		0.851 0.080 3 129529002 missense variant G/A snv
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 1993 1999
dbSNP: rs104893796
rs104893796 		0.851 0.080 3 129529014 missense variant C/T snv
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 1993 1999
dbSNP: rs104893793
rs104893793 		0.851 0.080 3 129531005 missense variant C/A;T snv 4.0E-06
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1994 2011
dbSNP: rs104893768
rs104893768 		0.807 0.080 3 129528801 missense variant C/A snv
CUI: C1864869
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0