rs201757275
|
0.925 |
0.200 |
18 |
45954395 |
missense variant |
T/C
|
snv
|
7.3E-05
|
2.1E-05
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2013 |
2018 |
rs754795342
|
1.000 |
0.160 |
18 |
45930737 |
missense variant |
T/G
|
snv
|
1.2E-05
|
1.4E-05
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2013 |
2018 |
rs1470797555
|
1.000 |
0.160 |
18 |
45951239 |
splice acceptor variant |
C/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2013 |
2013 |
rs587776940
|
1.000 |
0.160 |
18 |
45916110 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs863225064
|
1.000 |
0.160 |
18 |
45855683 |
stop gained |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs1555673917
|
1.000 |
0.160 |
18 |
45913824 |
stop gained |
C/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1568107449
|
1.000 |
0.160 |
18 |
45870708 |
stop gained |
C/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1568112516
|
1.000 |
0.160 |
18 |
45876292 |
stop gained |
G/C
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1568112543
|
1.000 |
0.160 |
18 |
45876319 |
stop gained |
C/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1568118775
|
1.000 |
0.160 |
18 |
45882313 |
missense variant |
G/C
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1568133724
|
1.000 |
0.160 |
18 |
45899430 |
stop gained |
G/A
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1568133760
|
1.000 |
0.160 |
18 |
45899462 |
stop gained |
A/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs587776939
|
1.000 |
0.160 |
18 |
45901054 |
stop gained |
G/A
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs587776941
|
1.000 |
0.160 |
18 |
45925881 |
stop gained |
C/A
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs587776942
|
1.000 |
0.160 |
18 |
45867742 |
stop gained |
G/A
|
snv
|
1.7E-05
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs762639913
|
1.000 |
0.160 |
18 |
45949543 |
frameshift variant |
GAAG/-
|
delins
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs767638289
|
1.000 |
0.160 |
18 |
45954507 |
stop gained |
G/A;C
|
snv
|
1.2E-05
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs780889226
|
1.000 |
0.160 |
18 |
45857962 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs866435487
|
1.000 |
0.160 |
18 |
45955266 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs961245497
|
1.000 |
0.160 |
18 |
45952403 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519318
|
1.000 |
0.160 |
18 |
45899548 |
frameshift variant |
T/-
|
delins
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1085308061
|
1.000 |
0.160 |
18 |
45910719 |
missense variant |
C/T
|
snv
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1085308062
|
1.000 |
0.160 |
18 |
45930734 |
frameshift variant |
-/C
|
delins
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1203870830
|
1.000 |
0.160 |
18 |
45948573 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555673890
|
1.000 |
0.160 |
18 |
45913732 |
stop gained |
-/GAGTTTATCACCAATTCCCCTTCAATAA
|
delins
|
|
|
Absent corpus callosum cataract immunodeficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|