rs74315377
|
1.000 |
0.120 |
1 |
168291339 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs74315378
|
1.000 |
0.120 |
1 |
168291213 |
missense variant |
T/G
|
snv
|
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2007 |
2007 |
rs140528998
|
1.000 |
0.120 |
1 |
168297747 |
stop gained |
C/G;T
|
snv
|
8.0E-06;
4.0E-06
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1553289042
|
1.000 |
0.120 |
1 |
168293243 |
stop gained |
C/T
|
snv
|
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1558190339
|
1.000 |
0.120 |
1 |
168291219 |
frameshift variant |
C/-
|
delins
|
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1558192351
|
1.000 |
0.120 |
1 |
168297785 |
splice donor variant |
G/-
|
delins
|
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs730880274
|
1.000 |
0.120 |
1 |
168305061 |
frameshift variant |
A/-
|
delins
|
|
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs74315376
|
1.000 |
0.120 |
1 |
168305136 |
stop gained |
C/T
|
snv
|
2.4E-05
|
4.9E-05
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs763818059
|
1.000 |
0.120 |
1 |
168281245 |
frameshift variant |
GA/-
|
delins
|
|
1.4E-05
|
ACTH Deficiency, Isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|