HNF1B, HNF1 homeobox B, 6928

N. diseases: 192; N. variants: 17
Disease: Diabetes Mellitus, Non-Insulin-Dependent ×
Source: BEFREE ×
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.870 1.000 7 2009 2019
dbSNP: rs121918673
rs121918673 		0.925 0.200 17 37701122 missense variant G/C snv 1.9E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 1 2002 2013
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 2010 2019
dbSNP: rs121918672
rs121918672 		0.925 0.200 17 37731814 stop gained G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs2229295
rs2229295 		1.000 0.080 17 37687273 3 prime UTR variant G/A;T snv 4.0E-06; 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015