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: rs141145502
rs141145502 		0.925 0.120 11 17387991 missense variant C/A;T snv 4.0E-06; 4.0E-06
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 2019 2019
dbSNP: rs529884745
rs529884745 		0.925 0.160 11 17387641 missense variant C/T snv 2.0E-05 5.6E-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: rs750414160
rs750414160 		0.925 0.120 11 17387224 missense variant C/A;T snv 4.0E-06; 2.0E-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 2011 2011
dbSNP: rs780957825
rs780957825 		0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-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 2010 2010