HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 241; N. variants: 43
Disease: Congenital Hyperinsulinism ×
Source: BEFREE ×
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: rs780813696
rs780813696 		0.827 0.240 20 44407388 missense variant C/A;T snv 4.1E-06 7.0E-06
CUI: C3888018
Disease: Congenital Hyperinsulinism
Congenital Hyperinsulinism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2015