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: rs1564980510
rs1564980510 		1.000 0.120 11 17463504 frameshift variant -/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: rs797045212
rs797045212 		1.000 0.120 11 17394274 inframe insertion -/AATGGAAGCCGTGGCCTCGTC 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: rs1554946437
rs1554946437 		1.000 0.120 11 17470142 frameshift variant -/AG 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: rs1057516654
rs1057516654 		1.000 0.120 11 17461609 frameshift variant -/C 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: rs1057517019
rs1057517019 		1.000 0.120 11 17410526 frameshift variant -/G 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: rs1554905787
rs1554905787 		1.000 0.120 11 17397008 frameshift variant -/G ins
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: rs768951263
rs768951263 		1.000 0.120 11 17448563 stop gained -/GAGCTGATTGGTGTCGATGGCAACCAGATTA delins 1.6E-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 0.700 0
dbSNP: rs1057517199
rs1057517199 		1.000 0.120 11 17461820 stop gained -/T 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 1.000 1 2006 2006
dbSNP: rs1057516665
rs1057516665 		1.000 0.120 11 17442746 frameshift variant -/T ins
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: rs1554910621
rs1554910621 		1.000 0.120 11 17404511 frameshift variant -/TGGAC 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: rs587783169
rs587783169 		1.000 0.120 11 17404560 frameshift variant A/- 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 3 2013 2014
dbSNP: rs1260178539
rs1260178539 		1.000 0.120 11 17432241 frameshift variant A/- delins 6.3E-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 1 2013 2013
dbSNP: rs1554926539
rs1554926539 		1.000 0.120 11 17430879 frameshift variant A/- 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 0
dbSNP: rs778892038
rs778892038 		1.000 0.080 11 17461618 missense variant A/C snv 2.0E-05 2.8E-05
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: rs80356642
rs80356642 		1.000 0.080 11 17461767 missense variant A/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: rs368710356
rs368710356 		1.000 0.120 11 17397304 missense variant A/C snv 3.2E-05 2.1E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61415111
rs61415111 		1.000 0.080 11 17399294 intron variant A/C snv 5.9E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2020 2020
dbSNP: rs1554904006
rs1554904006 		1.000 0.120 11 17394264 splice donor variant A/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: rs1554949176
rs1554949176 		1.000 0.120 11 17476627 splice donor variant A/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: rs193922399
rs193922399 		1.000 0.120 11 17404527 missense variant A/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 0.700 0
dbSNP: rs193922406
rs193922406 		1.000 0.120 11 17393752 missense variant A/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 0.700 0
dbSNP: rs797045208
rs797045208 		1.000 0.120 11 17474937 missense variant A/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: rs886039877
rs886039877 		1.000 0.120 11 17395904 missense variant A/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: rs971604271
rs971604271 		1.000 0.120 11 17395207 missense variant A/C snv 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 0
dbSNP: rs80356637
rs80356637 		0.851 0.240 11 17470119 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 4 2006 2007