rs28936702
|
1.000 |
0.080 |
3 |
57198277 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.820 |
1.000 |
2 |
1998 |
2016 |
rs121909173
|
0.851 |
0.240 |
3 |
57199901 |
missense variant |
C/G
|
snv
|
2.8E-05
|
1.4E-05
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.710 |
0.750 |
3 |
2001 |
2016 |
rs1238248024
|
0.925 |
0.080 |
3 |
57198953 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2009 |
rs1238248024
|
0.925 |
0.080 |
3 |
57198953 |
splice acceptor variant |
C/A;G
|
snv
|
|
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2009 |
rs104893742
|
0.882 |
0.160 |
3 |
57198405 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.8E-05
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2007 |
rs28936703
|
1.000 |
0.080 |
3 |
57198246 |
missense variant |
G/A
|
snv
|
3.6E-05
|
7.0E-06
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2001 |
rs28936704
|
1.000 |
0.080 |
3 |
57198214 |
missense variant |
T/C
|
snv
|
1.0E-04
|
7.7E-05
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2007 |
rs104893742
|
0.882 |
0.160 |
3 |
57198405 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.8E-05
|
Growth Hormone Deficiency With Pituitary Anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28936416
|
0.925 |
0.120 |
3 |
57199842 |
missense variant |
A/G
|
snv
|
|
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs754137696
|
0.925 |
0.160 |
3 |
57198797 |
missense variant |
A/C
|
snv
|
1.9E-04
|
1.4E-05
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs754137696
|
0.925 |
0.160 |
3 |
57198797 |
missense variant |
A/C
|
snv
|
1.9E-04
|
1.4E-05
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs768165720
|
0.925 |
0.120 |
3 |
57198784 |
missense variant |
C/T
|
snv
|
7.6E-05
|
1.1E-04
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs777223697
|
0.925 |
0.160 |
3 |
57198802 |
stop gained |
A/T
|
snv
|
8.0E-06
|
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs777223697
|
0.925 |
0.160 |
3 |
57198802 |
stop gained |
A/T
|
snv
|
8.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs777833871
|
0.925 |
0.160 |
3 |
57198870 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs777833871
|
0.925 |
0.160 |
3 |
57198870 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Septo-Optic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|