rs587778872
|
0.807 |
0.200 |
2 |
208128231 |
missense variant |
G/A;C
|
snv
|
8.0E-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
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs864309689
|
1.000 |
0.200 |
2 |
208128399 |
frameshift variant |
GG/A
|
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 |
rs137853924
|
0.851 |
0.200 |
2 |
208128343 |
missense variant |
C/A;T
|
snv
|
|
|
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 |
2015 |
2015 |
rs28931604
|
0.925 |
0.200 |
2 |
208128226 |
missense variant |
G/A
|
snv
|
1.6E-03
|
1.8E-04
|
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 |
2007 |
2007 |
rs376626721
|
1.000 |
0.200 |
2 |
208128385 |
missense variant |
G/A;T
|
snv
|
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 |
2003 |
2003 |
rs398122944
|
0.851 |
0.200 |
2 |
208128257 |
stop gained |
C/G;T
|
snv
|
|
|
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 |
2012 |
2012 |
rs61751949
|
0.925 |
0.200 |
2 |
208129550 |
missense variant |
C/T
|
snv
|
1.7E-02
|
1.1E-02
|
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 |
2013 |
2013 |