HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
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: rs1057520291
rs1057520291 		1.000 0.120 12 120989017 stop gained C/A;T snv 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: rs193922587
rs193922587 		0.925 0.160 12 120999522 missense variant C/T snv 8.1E-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