Disease: Congenital Hyperinsulinism ×
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: rs72559716
rs72559716 		0.882 0.120 11 17395172 missense variant C/T snv 2.2E-05 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 7 2005 2013
dbSNP: rs139964066
rs139964066 		0.925 0.120 11 17402671 missense variant G/A snv 5.6E-05 3.5E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 6 2004 2015
dbSNP: rs200670692
rs200670692 		0.925 0.120 11 17476715 missense variant A/T snv 5.8E-05 3.5E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 6 2006 2016
dbSNP: rs863225280
rs863225280 		0.925 0.120 11 17461722 missense variant C/T snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 6 2004 2013
dbSNP: rs1057516317
rs1057516317 		0.925 0.120 11 17402737 frameshift variant C/- delins 2.1E-05
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 5 2006 2016
dbSNP: rs151344623
rs151344623 		0.882 0.120 11 17397055 missense variant C/G;T snv 3.3E-04
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 4 1995 2011
dbSNP: rs72559734
rs72559734 		0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2013
dbSNP: rs151344624
rs151344624 		0.925 0.120 11 17395888 inframe deletion AAG/- delins
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 2 1996 2011
dbSNP: rs1057517420
rs1057517420 		0.925 0.120 11 17408518 splice acceptor variant C/G snv 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs137852671
rs137852671 		0.790 0.160 11 17394295 missense variant C/T snv
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.030 1.000 3 2000 2010
dbSNP: rs137852672
rs137852672 		0.925 0.120 11 17463457 splice donor variant A/T snv 1.5E-04 2.2E-04
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 2000 2000
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: rs387906407
rs387906407 		0.925 0.120 11 17395610 missense variant C/G;T snv
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 2000 2000
dbSNP: rs769279368
rs769279368 		0.925 0.120 11 17395872 missense variant C/A;T snv 3.9E-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 2001 2001