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: rs1554924035
rs1554924035 		1.000 0.120 11 17427069 frameshift variant T/- 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 2013 2013
dbSNP: rs786204542
rs786204542 		1.000 0.120 11 17406924 frameshift variant GGT/CAGTTCCTGGCTG 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 2007 2007
dbSNP: rs387906408
rs387906408 		1.000 0.120 11 17395891 inframe deletion GGA/- 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: rs1554912381
rs1554912381 		1.000 0.120 11 17406873 splice donor variant GCCGCCAGTCACACCTGGCTGAGGGAG/- 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: rs193929366
rs193929366 		1.000 0.080 11 17461774 missense variant G/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929369
rs193929369 		1.000 0.080 11 17404515 missense variant G/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs72559726
rs72559726 		1.000 0.120 11 17430858 missense variant G/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: rs137852674
rs137852674 		0.925 0.120 11 17430887 missense variant G/C 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 0.800 1.000 1 2006 2006
dbSNP: rs1057516439
rs1057516439 		1.000 0.120 11 17404544 stop gained G/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: rs1320740169
rs1320740169 		1.000 0.120 11 17393086 missense variant G/C 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
dbSNP: rs137852674
rs137852674 		0.925 0.120 11 17430887 missense variant G/C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554904936
rs1554904936 		1.000 0.080 11 17395652 missense variant G/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1564890766
rs1564890766 		1.000 0.120 11 17405547 missense variant G/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 0
dbSNP: rs60637558
rs60637558 		1.000 0.120 11 17470138 missense variant G/C snv 8.8E-05 7.7E-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 0
dbSNP: rs542157938
rs542157938 		1.000 0.120 11 17397296 missense variant G/A;T snv 4.4E-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: rs137852675
rs137852675 		1.000 0.080 11 17404518 missense variant G/A;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 4 2006 2007
dbSNP: rs80356640
rs80356640 		1.000 0.080 11 17461778 missense variant G/A;T snv 3.2E-05
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: rs137852673
rs137852673 		0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
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 0.800 1.000 1 2006 2006
dbSNP: rs137852673
rs137852673 		0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-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 2007 2007
dbSNP: rs4148641
rs4148641 		11 17399926 intron variant G/A;T snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs779736828
rs779736828 		0.925 0.120 11 17413396 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs779736828
rs779736828 		0.925 0.120 11 17413396 missense variant G/A;T snv 4.0E-06; 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 0.010 1.000 1 2014 2014
dbSNP: rs137852673
rs137852673 		0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137852673
rs137852673 		0.851 0.120 11 17395915 missense variant G/A;T snv 5.0E-06; 2.0E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs570388861
rs570388861 		1.000 0.120 11 17408415 stop gained G/A;C snv 1.2E-05; 1.2E-05
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 3 2006 2014