rs397515625
|
0.882 |
0.200 |
21 |
43169160 |
missense variant |
C/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
|
0.720 |
1.000 |
3 |
2013 |
2018 |
rs864309685
|
1.000 |
0.200 |
21 |
43169241 |
missense variant |
T/C;G
|
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
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1114167311
|
1.000 |
0.200 |
21 |
43172198 |
frameshift variant |
A/-
|
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
|
0.700 |
|
0 |
|
|
rs397515623
|
0.925 |
0.200 |
21 |
43169259 |
missense variant |
C/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
|
0.700 |
|
0 |
|
|
rs143349894
|
0.925 |
0.200 |
21 |
43172168 |
missense variant |
G/C
|
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 |
2011 |
2011 |
rs397515626
|
0.925 |
0.200 |
21 |
43169161 |
missense variant |
G/A
|
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 |
2018 |
2018 |
rs7278468
|
0.882 |
0.280 |
21 |
43168647 |
upstream gene variant |
T/A;G
|
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 |
2017 |
2017 |
rs74315439
|
0.790 |
0.200 |
21 |
43172104 |
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 |
2003 |
2003 |
rs756635396
|
1.000 |
0.200 |
21 |
43170586 |
missense variant |
G/A
|
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 |
2013 |
2013 |