HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Hyperinsulinism due to HNF4A deficiency ×
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: rs776489992
rs776489992 		1.000 0.040 20 44424133 inframe deletion TGC/-;TGCTGC delins 1.4E-04
CUI: C4274078
Disease: Hyperinsulinism due to HNF4A deficiency
Hyperinsulinism due to HNF4A deficiency 		Nutritional and Metabolic Diseases 0.700 0