Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74339576
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
dbSNP: rs104894237
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
dbSNP: rs104894248
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
dbSNP: rs1404429785
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
dbSNP: rs267607196
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
dbSNP: rs141145502
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
dbSNP: rs1479483693
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
dbSNP: rs1554901679
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
dbSNP: rs577757932
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
dbSNP: rs954727530
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
dbSNP: rs1371185696
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
dbSNP: rs28936678
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
dbSNP: rs104894236
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
dbSNP: rs1337406718
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
dbSNP: rs1343400778
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
dbSNP: rs1554901690
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
dbSNP: rs1554901718
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
dbSNP: rs1554901829
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
dbSNP: rs1554901854
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
dbSNP: rs387906398
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
dbSNP: rs587783669
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
dbSNP: rs747719667
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
dbSNP: rs750414160
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
dbSNP: rs752507753
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
dbSNP: rs766891274
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