rs28931605
|
0.807 |
0.200 |
2 |
208124294 |
missense variant |
G/A;T
|
snv
|
4.2E-06;
1.3E-05
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.720 |
1.000 |
3 |
2016 |
2017 |
rs1463326176
|
0.851 |
0.200 |
2 |
208124291 |
frameshift variant |
TGGG/-
|
del
|
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2017 |
2017 |
rs150857132
|
0.851 |
0.200 |
2 |
208124183 |
missense variant |
C/A;T
|
snv
|
4.4E-04;
4.0E-06
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs202233735
|
1.000 |
0.200 |
2 |
208124196 |
stop gained |
G/C;T
|
snv
|
6.3E-03;
4.0E-06
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs770593386
|
1.000 |
0.200 |
2 |
208121797 |
missense variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs773365689
|
1.000 |
0.200 |
2 |
208121873 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs864309701
|
1.000 |
0.200 |
2 |
208121749 |
frameshift variant |
-/C
|
delins
|
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |