rs1048095
|
1.000 |
0.080 |
11 |
17461731 |
missense variant |
A/G
|
snv
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.810 |
1.000 |
5 |
2006 |
2007 |
rs201682634
|
1.000 |
0.120 |
11 |
17474956 |
missense variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
30 |
1996 |
2015 |
rs139964066
|
0.925 |
0.120 |
11 |
17402671 |
missense variant |
G/A
|
snv
|
5.6E-05
|
3.5E-05
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
29 |
1996 |
2016 |
rs72559716
|
0.882 |
0.120 |
11 |
17395172 |
missense variant |
C/T
|
snv
|
2.2E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
28 |
1996 |
2018 |
rs28938469
|
0.925 |
0.160 |
11 |
17395659 |
missense variant |
G/A
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
27 |
1996 |
2015 |
rs200670692
|
0.925 |
0.120 |
11 |
17476715 |
missense variant |
A/T
|
snv
|
5.8E-05
|
3.5E-05
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
26 |
1996 |
2016 |
rs72559715
|
0.827 |
0.160 |
11 |
17394379 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
25 |
1996 |
2015 |
rs72559734
|
0.807 |
0.160 |
11 |
17474955 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
25 |
1996 |
2016 |
rs1554933168
|
1.000 |
0.120 |
11 |
17442842 |
missense variant |
A/G
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
24 |
1996 |
2015 |
rs372307320
|
1.000 |
0.120 |
11 |
17442849 |
missense variant |
C/T
|
snv
|
4.0E-06
|
2.1E-05
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
24 |
1996 |
2017 |
rs1446306735
|
0.882 |
0.120 |
11 |
17395664 |
missense variant |
C/A;T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
23 |
1996 |
2015 |
rs761749884
|
1.000 |
0.120 |
11 |
17470182 |
missense variant |
C/T
|
snv
|
8.0E-06
|
2.1E-05
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
23 |
1996 |
2015 |
rs137852671
|
0.790 |
0.160 |
11 |
17394295 |
missense variant |
C/T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs137852672
|
0.925 |
0.120 |
11 |
17463457 |
splice donor variant |
A/T
|
snv
|
1.5E-04
|
2.2E-04
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs28936370
|
0.925 |
0.120 |
11 |
17396980 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
2.0E-05
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs28936371
|
0.925 |
0.120 |
11 |
17394334 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs387906407
|
0.925 |
0.120 |
11 |
17395610 |
missense variant |
C/G;T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs72559713
|
0.925 |
0.120 |
11 |
17393109 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs72559723
|
1.000 |
0.120 |
11 |
17427124 |
missense variant |
C/A;T
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
20 |
1996 |
2015 |
rs797045213
|
1.000 |
0.120 |
11 |
17463454 |
missense variant |
T/C
|
snv
|
|
|
Hyperinsulinemic hypoglycemia, familial, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2016 |
rs137852676
|
0.882 |
0.160 |
11 |
17395852 |
stop gained |
C/A;T
|
snv
|
1.5E-05
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
2006 |
2007 |
rs80356634
|
1.000 |
0.080 |
11 |
17474961 |
missense variant |
T/C
|
snv
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
2006 |
2007 |
rs80356637
|
0.851 |
0.240 |
11 |
17470119 |
missense variant |
A/C;G
|
snv
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
2006 |
2007 |
rs80356640
|
1.000 |
0.080 |
11 |
17461778 |
missense variant |
G/A;T
|
snv
|
3.2E-05
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
2006 |
2007 |
rs80356642
|
1.000 |
0.080 |
11 |
17461767 |
missense variant |
A/C
|
snv
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
2006 |
2007 |