HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
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: rs193922479
rs193922479
0.925 0.080 20 44424116 missense variant C/A;T snv 8.0E-06 7.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777732
rs587777732
0.763 0.240 20 44406195 missense variant C/T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
Nutritional and Metabolic Diseases 0.700 0