HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Cystic renal dysplasia ×
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: rs1057519371
rs1057519371 		0.925 0.200 17 37710576 frameshift variant -/G delins
CUI: C1834931
Disease: Cystic renal dysplasia
Cystic renal dysplasia 		0.700 1.000 1 2017 2017