rs864309677
|
1.000 |
0.200 |
1 |
147908074 |
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 |
1.000 |
1 |
2016 |
2016 |
rs864309684
|
1.000 |
0.200 |
1 |
147908040 |
frameshift variant |
-/T
|
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 |
rs864309688
|
0.882 |
0.200 |
1 |
147908089 |
missense variant |
G/C
|
snv
|
|
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
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs864309703
|
1.000 |
0.200 |
1 |
147908106 |
missense variant |
G/A;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 |
1.000 |
1 |
2016 |
2016 |
rs1114167309
|
1.000 |
0.200 |
1 |
147908028 |
missense variant |
T/C
|
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 |
|
|
rs1114167310
|
1.000 |
0.200 |
1 |
147908439 |
missense variant |
G/A
|
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 |
|
|
rs121434643
|
0.851 |
0.200 |
1 |
147908094 |
missense variant |
G/A;C
|
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
|
0.030 |
1.000 |
3 |
2011 |
2017 |
rs587654743
|
1.000 |
0.200 |
1 |
147908787 |
missense variant |
T/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 |
2015 |
2015 |
rs80358201
|
0.925 |
0.200 |
1 |
147908097 |
missense variant |
G/A
|
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 |
< 0.001 |
1 |
2009 |
2009 |