HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) ×
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: rs1555212248
rs1555212248 		0.925 0.080 12 120996570 frameshift variant T/- del
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0