rs74339576
|
0.882 |
0.160 |
11 |
17387190 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
17 |
1995 |
2013 |
rs104894237
|
1.000 |
0.120 |
11 |
17387331 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2009 |
rs104894248
|
1.000 |
0.120 |
11 |
17387316 |
missense variant |
T/C
|
snv
|
4.4E-05
|
1.4E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2009 |
rs1404429785
|
1.000 |
0.120 |
11 |
17387626 |
missense variant |
C/T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2009 |
rs267607196
|
0.827 |
0.160 |
11 |
17387248 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.8E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
12 |
1995 |
2009 |
rs141145502
|
0.925 |
0.120 |
11 |
17387991 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
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 |
12 |
1995 |
2009 |
rs1479483693
|
1.000 |
0.120 |
11 |
17387685 |
missense variant |
C/A;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 |
12 |
1995 |
2009 |
rs1554901679
|
1.000 |
0.120 |
11 |
17387295 |
missense variant |
G/A
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2009 |
rs577757932
|
1.000 |
0.120 |
11 |
17387480 |
missense variant |
G/T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2009 |
rs954727530
|
0.882 |
0.160 |
11 |
17387992 |
missense variant |
G/A;C
|
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 |
4 |
2003 |
2016 |
rs1371185696
|
0.882 |
0.160 |
11 |
17387532 |
missense variant |
G/A
|
snv
|
|
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 |
2001 |
2011 |
rs28936678
|
1.000 |
0.120 |
11 |
17387652 |
missense variant |
A/G
|
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 |
1 |
1996 |
1996 |
rs104894236
|
1.000 |
0.120 |
11 |
17388056 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1337406718
|
0.882 |
0.160 |
11 |
17387027 |
frameshift variant |
-/A
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1343400778
|
1.000 |
0.120 |
11 |
17387927 |
missense variant |
G/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 |
|
0 |
|
|
rs1554901690
|
0.882 |
0.160 |
11 |
17387320 |
frameshift variant |
-/GATGATC
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554901718
|
0.882 |
0.160 |
11 |
17387373 |
frameshift variant |
-/T
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554901829
|
0.882 |
0.160 |
11 |
17387726 |
frameshift variant |
AAGG/-
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554901854
|
0.882 |
0.160 |
11 |
17387801 |
frameshift variant |
-/T
|
delins
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387906398
|
1.000 |
0.120 |
11 |
17388225 |
5 prime UTR variant |
C/A
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587783669
|
0.882 |
0.160 |
11 |
17387594 |
stop gained |
G/C;T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs747719667
|
1.000 |
0.120 |
11 |
17387891 |
missense variant |
C/G
|
snv
|
2.8E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs750414160
|
0.925 |
0.120 |
11 |
17387224 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.0E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs752507753
|
1.000 |
0.120 |
11 |
17388013 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs766891274
|
1.000 |
0.120 |
11 |
17387686 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|