Source: ALL
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: rs886041392
rs886041392 		1.000 0.120 11 17406901 frameshift variant TTCCTGGCTGCAGGGGTCAG/- delins 8.0E-06 7.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2001 2014
dbSNP: rs1057516890
rs1057516890 		1.000 0.120 11 17396962 frameshift variant TT/A delins
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516542
rs1057516542 		1.000 0.120 11 17427884 frameshift variant TG/- delins
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs786204717
rs786204717 		1.000 0.120 11 17427144 frameshift variant TCAG/- delins
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
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
dbSNP: rs1554933565
rs1554933565 		1.000 0.120 11 17443297 frameshift variant TC/- del
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs761862121
rs761862121 		1.000 0.120 11 17410544 missense variant T/G snv 1.6E-05 2.1E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 20 1996 2015
dbSNP: rs796891223
rs796891223 		1.000 0.120 11 17393714 missense variant T/G snv
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs72559728
rs72559728 		1.000 0.120 11 17448632 missense variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 20 1996 2015
dbSNP: rs797045213
rs797045213 		1.000 0.120 11 17463454 missense variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
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
dbSNP: rs80356634
rs80356634 		1.000 0.080 11 17474961 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2006 2007
dbSNP: rs80356653
rs80356653 		1.000 0.080 11 17395647 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2006 2007
dbSNP: rs146695489
rs146695489 		0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs146695489
rs146695489 		0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1554904136
rs1554904136 		1.000 0.120 11 17394401 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1554938866
rs1554938866 		1.000 0.120 11 17453285 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs59852838
rs59852838 		0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		0.010 1.000 1 2008 2008
dbSNP: rs59852838
rs59852838 		0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs59852838
rs59852838 		0.882 0.120 11 17453228 missense variant T/C snv 4.0E-05 4.9E-05
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs786204695
rs786204695 		1.000 0.120 11 17470224 splice acceptor variant T/C snv
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
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
dbSNP: rs886041391
rs886041391 		1.000 0.120 11 17395277 splice acceptor variant T/C snv 1.5E-05
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs984164636
rs984164636 		1.000 0.120 11 17461720 missense variant T/C snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057517015
rs1057517015 		1.000 0.120 11 17463606 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554906450
rs1554906450 		1.000 0.120 11 17397799 splice acceptor variant T/C snv
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922397
rs193922397 		1.000 0.120 11 17442734 missense variant T/C snv 4.0E-06
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057516946
rs1057516946 		1.000 0.120 11 17442884 splice acceptor variant T/A;G snv 4.0E-06
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0