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: rs104893740
rs104893740 		0.925 0.080 3 50193139 missense variant G/A snv 4.0E-06
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 1996 2007
dbSNP: rs786205853
rs786205853 		0.925 0.080 3 50194111 missense variant C/G snv
CUI: C1864870
Disease: Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night Blindness, Congenital Stationary, Autosomal Dominant 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs786205854
rs786205854 		1.000 3 50193600 missense variant A/G snv
CUI: C4225345
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 		0.800 0
dbSNP: rs11716820
rs11716820 		3 50190883 upstream gene variant C/T snv 6.8E-02
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs9858059
rs9858059 		3 50190438 upstream gene variant C/A;T snv 0.45
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs104893740
rs104893740 		0.925 0.080 3 50193139 missense variant G/A snv 4.0E-06
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 2007 2007
dbSNP: rs786205853
rs786205853 		0.925 0.080 3 50194111 missense variant C/G 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 2007 2007