NYX, nyctalopin, 60506

N. diseases: 36; N. variants: 20
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: rs62637027
rs62637027 		1.000 0.080 X 41474012 missense variant GC/AA mnv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 2000 2000
dbSNP: rs62637020
rs62637020 		1.000 0.080 X 41473545 missense variant G/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637023
rs62637023 		1.000 0.080 X 41473880 missense variant G/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637024
rs62637024 		1.000 0.080 X 41473905 missense variant C/T snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637025
rs62637025 		1.000 0.080 X 41473977 missense variant C/G snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637026
rs62637026 		1.000 0.080 X 41474004 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637028
rs62637028 		1.000 0.080 X 41474091 missense variant T/A snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637030
rs62637030 		1.000 0.080 X 41474148 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637032
rs62637032 		1.000 0.080 X 41474245 missense variant C/G;T snv 6.4E-06
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637033
rs62637033 		1.000 0.080 X 41474307 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637034
rs62637034 		1.000 0.080 X 41474346 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637035
rs62637035 		1.000 0.080 X 41474388 missense variant A/G snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637036
rs62637036 		1.000 0.080 X 41474493 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs62637038
rs62637038 		1.000 0.080 X 41474562 missense variant G/T snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2000 2000
dbSNP: rs104894910
rs104894910 		0.882 0.080 X 41473734 missense variant G/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104894911
rs104894911 		1.000 0.080 X 41473755 missense variant T/C snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555967263
rs1555967263 		X 41474389 missense variant C/G snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 0
dbSNP: rs1555967281
rs1555967281 		1.000 0.080 X 41474443 inframe deletion TCTTCC/- delins
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62637021
rs62637021 		1.000 0.080 X 41473558 stop gained C/A snv
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62637037
rs62637037 		1.000 0.080 X 41474502 stop gained G/A snv 1.2E-05 9.4E-05
CUI: C3495587
Disease: Night Blindness, Congenital Stationary, Type 1A
Night Blindness, Congenital Stationary, Type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs104894910
rs104894910 		0.882 0.080 X 41473734 missense variant G/C snv
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104894910
rs104894910 		0.882 0.080 X 41473734 missense variant G/C snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.010 1.000 1 2006 2006