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