HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Diabetes Mellitus ×
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: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2009 2014
dbSNP: rs1282596664
rs1282596664 		1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs758130759
rs758130759 		0.925 0.120 17 37699149 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018