rs104893756
|
1.000 |
0.120 |
3 |
87262203 |
missense variant |
C/G;T
|
snv
|
2.4E-05;
8.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893757
|
1.000 |
0.120 |
3 |
87276392 |
missense variant |
G/A
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893758
|
1.000 |
0.120 |
3 |
87262098 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893759
|
1.000 |
0.120 |
3 |
87264299 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893761
|
1.000 |
0.120 |
3 |
87264323 |
missense variant |
A/C
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893762
|
1.000 |
0.120 |
3 |
87260055 |
missense variant |
G/A
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893764
|
1.000 |
0.120 |
3 |
87260082 |
stop gained |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893765
|
1.000 |
0.120 |
3 |
87262160 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893766
|
0.925 |
0.160 |
3 |
87262138 |
missense variant |
G/C
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.800 |
1.000 |
12 |
1992 |
2016 |
rs104893755
|
0.851 |
0.200 |
3 |
87259959 |
missense variant |
G/A
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
1.000 |
12 |
1992 |
2016 |
rs1207179169
|
1.000 |
0.120 |
3 |
87262154 |
missense variant |
T/C
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
1.000 |
12 |
1992 |
2016 |
rs104893754
|
1.000 |
0.120 |
3 |
87262161 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104893760
|
1.000 |
0.120 |
3 |
87260022 |
stop gained |
C/A
|
snv
|
1.6E-05
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs104893763
|
1.000 |
0.120 |
3 |
87264294 |
stop gained |
T/A
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs515726221
|
1.000 |
0.120 |
3 |
87261272 |
splice donor variant |
C/A
|
snv
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776798
|
1.000 |
0.120 |
3 |
87260023 |
frameshift variant |
T/-
|
delins
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587776799
|
1.000 |
0.120 |
3 |
87259994 |
frameshift variant |
-/T
|
delins
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs754584667
|
1.000 |
0.120 |
3 |
87264515 |
splice region variant |
G/A;C;T
|
snv
|
1.6E-05
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs772390221
|
0.925 |
0.160 |
3 |
87261296 |
frameshift variant |
CTTTC/-
|
delins
|
|
|
Pituitary Hormone Deficiency, Combined, 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs780359925
|
0.925 |
0.160 |
3 |
87259977 |
missense variant |
G/A
|
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 |
|
|