rs541269678
|
0.925 |
0.120 |
11 |
17407417 |
stop gained |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
11 |
1998 |
2014 |
rs367850779
|
0.925 |
0.120 |
11 |
17402670 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2010 |
rs72559716
|
0.882 |
0.120 |
11 |
17395172 |
missense variant |
C/T
|
snv
|
2.2E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
2000 |
2010 |
rs28936371
|
0.925 |
0.120 |
11 |
17394334 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
1976 |
2011 |
rs1057516281
|
0.925 |
0.120 |
11 |
17398344 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2006 |
2013 |
rs137852676
|
0.882 |
0.160 |
11 |
17395852 |
stop gained |
C/A;T
|
snv
|
1.5E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2004 |
2012 |
rs72559713
|
0.925 |
0.120 |
11 |
17393109 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2010 |
rs72559722
|
0.807 |
0.160 |
11 |
17412716 |
stop gained |
G/A
|
snv
|
6.1E-05
|
2.1E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2013 |
rs750586210
|
1.000 |
0.120 |
11 |
17453117 |
splice donor variant |
A/G
|
snv
|
2.8E-05
|
1.4E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2005 |
2014 |
rs193922402
|
0.807 |
0.160 |
11 |
17395611 |
stop gained |
G/A
|
snv
|
1.3E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2013 |
rs368114790
|
1.000 |
0.120 |
11 |
17442788 |
missense variant |
C/T
|
snv
|
1.0E-04
|
1.1E-04
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs570388861
|
1.000 |
0.120 |
11 |
17408415 |
stop gained |
G/A;C
|
snv
|
1.2E-05;
1.2E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2006 |
2014 |
rs1382448285
|
1.000 |
0.120 |
11 |
17410517 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs1554923999
|
0.925 |
0.120 |
11 |
17427048 |
splice donor variant |
C/A;T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs1564977373
|
0.925 |
0.120 |
11 |
17461710 |
stop gained |
C/T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs786204542
|
1.000 |
0.120 |
11 |
17406924 |
frameshift variant |
GGT/CAGTTCCTGGCTG
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs786204676
|
1.000 |
0.120 |
11 |
17427865 |
splice donor variant |
A/G
|
snv
|
8.0E-06
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786204695
|
1.000 |
0.120 |
11 |
17470224 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs786204717
|
1.000 |
0.120 |
11 |
17427144 |
frameshift variant |
TCAG/-
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs149331388
|
1.000 |
0.120 |
11 |
17396984 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.8E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs151344623
|
0.882 |
0.120 |
11 |
17397055 |
missense variant |
C/G;T
|
snv
|
3.3E-04
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1564890766
|
1.000 |
0.120 |
11 |
17405547 |
missense variant |
G/C
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|