|
rs267607139
|
1.000 |
0.080 |
15 |
31042140 |
missense variant |
G/T
|
snv
|
8.0E-06
|
7.0E-06
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
3 |
2009 |
2009 |
|
rs191205969
|
1.000 |
0.080 |
15 |
31068010 |
missense variant |
A/G
|
snv
|
1.2E-04
|
1.6E-04
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
|
0 |
|
|
|
rs369484186
|
1.000 |
0.080 |
15 |
31031040 |
missense variant |
T/A
|
snv
|
2.0E-05
|
2.8E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
3 |
2009 |
2009 |
|
rs372608320
|
1.000 |
0.080 |
15 |
31061447 |
missense variant |
A/C
|
snv
|
2.0E-05
|
8.4E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
3 |
2009 |
2009 |
|
rs574652148
|
1.000 |
0.080 |
15 |
31032927 |
missense variant |
T/C
|
snv
|
8.7E-04
|
1.5E-04
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
3 |
2009 |
2009 |
|
rs781460164
|
1.000 |
0.080 |
15 |
31040206 |
missense variant |
C/T
|
snv
|
1.6E-05
|
2.8E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
3 |
2009 |
2009 |
|
rs150441866
|
1.000 |
0.080 |
15 |
31069884 |
stop gained |
A/C
|
snv
|
4.3E-06
|
7.0E-06
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
|
rs387906862
|
1.000 |
0.080 |
15 |
31042102 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.1E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
|
rs869312176
|
1.000 |
0.080 |
15 |
31066093 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
|
rs1261040173
|
1.000 |
0.080 |
15 |
31047187 |
missense variant |
A/T
|
snv
|
4.0E-06
|
2.8E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs1485132228
|
0.925 |
0.080 |
15 |
31035551 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs200514769
|
1.000 |
0.080 |
15 |
31068091 |
missense variant |
T/C
|
snv
|
1.6E-04
|
2.1E-04
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs267607140
|
1.000 |
0.080 |
15 |
31028454 |
stop gained |
A/G;T
|
snv
|
1.2E-05
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs267607141
|
1.000 |
0.080 |
15 |
31070213 |
stop gained |
G/A
|
snv
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs372529012
|
1.000 |
0.080 |
15 |
31068090 |
stop gained |
A/C;G
|
snv
|
6.4E-05
|
1.5E-04
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs748043795
|
1.000 |
0.080 |
15 |
31047209 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
8.0E-06
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs772011426
|
1.000 |
0.080 |
15 |
31062573 |
splice donor variant |
TTAC/-
|
delins
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs774365264
|
1.000 |
0.080 |
15 |
31068086 |
missense variant |
G/A
|
snv
|
3.2E-05
|
2.8E-05
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
|
rs786205113
|
1.000 |
0.080 |
15 |
31032930 |
stop gained |
G/T
|
snv
|
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|