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: rs80356637
rs80356637 		0.851 0.240 11 17470119 missense variant A/C;G snv
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		Nervous System Diseases 0.020 1.000 2 2006 2007
dbSNP: rs80356637
rs80356637 		0.851 0.240 11 17470119 missense variant A/C;G snv
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
Developmental Delay, Epilepsy, and Neonatal Diabetes 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006
dbSNP: rs1262517518
rs1262517518 		1.000 0.120 11 17404629 missense variant A/C;G snv 8.0E-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: rs193929360
rs193929360 		1.000 0.080 11 17474919 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356637
rs80356637 		0.851 0.240 11 17470119 missense variant A/C;G snv
CUI: C1833102
Disease: DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554933168
rs1554933168 		1.000 0.120 11 17442842 missense variant A/G 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 24 1996 2015
dbSNP: rs1554904565
rs1554904565 		1.000 0.120 11 17395234 missense variant A/G 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: rs67254669
rs67254669 		1.000 0.120 11 17448596 missense variant A/G snv 6.9E-04 7.2E-04
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: rs72559713
rs72559713 		0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 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 0.800 1.000 20 1996 2015
dbSNP: rs72559727
rs72559727 		1.000 0.120 11 17442827 missense variant A/G 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: rs1048095
rs1048095 		1.000 0.080 11 17461731 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 5 2006 2007
dbSNP: rs72559713
rs72559713 		0.925 0.120 11 17393109 missense variant A/G snv 1.2E-05 7.0E-06
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 5 1999 2010
dbSNP: rs750586210
rs750586210 		1.000 0.120 11 17453117 splice donor variant A/G snv 2.8E-05 1.4E-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 4 2005 2014
dbSNP: rs758604661
rs758604661 		0.925 0.120 11 17474898 missense variant A/G snv 8.0E-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: rs758604661
rs758604661 		0.925 0.120 11 17474898 missense variant A/G snv 8.0E-06
CUI: C0022638
Disease: Ketosis
Ketosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs786204676
rs786204676 		1.000 0.120 11 17427865 splice donor variant A/G snv 8.0E-06
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: rs1057516589
rs1057516589 		1.000 0.120 11 17416928 splice donor variant A/G 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: rs1057517128
rs1057517128 		1.000 0.120 11 17443176 splice donor variant A/G 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: rs1554948310
rs1554948310 		0.827 0.160 11 17474884 splice donor variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554948310
rs1554948310 		0.827 0.160 11 17474884 splice donor variant A/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: rs1554948310
rs1554948310 		0.827 0.160 11 17474884 splice donor variant A/G 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: rs1554948310
rs1554948310 		0.827 0.160 11 17474884 splice donor variant A/G 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: rs1554948310
rs1554948310 		0.827 0.160 11 17474884 splice donor variant A/G snv
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs193922396
rs193922396 		1.000 0.120 11 17442744 missense variant A/G snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193929364
rs193929364 		1.000 0.080 11 17470109 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0