HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
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: rs587776825
rs587776825
0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins
CUI: C1840646
Disease: Hepatic Adenomas, Familial
Hepatic Adenomas, Familial
Digestive System Diseases; Neoplasms 0.700 0