HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.870 1.000 11 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 3 2002 2013
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.800 1.000 21 2007 2019
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.800 1.000 18 2008 2018
dbSNP: rs121918675
rs121918675 		1.000 0.200 17 37739490 missense variant C/T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 17 1999 2018
dbSNP: rs121918674
rs121918674 		1.000 0.200 17 37739541 missense variant G/C snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 13 1999 2015
dbSNP: rs886043813
rs886043813 		1.000 0.200 17 37731756 missense variant C/T snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 1.000 4 2004 2015
dbSNP: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.800 1.000 2 2011 2016
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.800 1.000 2 2011 2016
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2019
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2012 2018
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.800 1.000 1 2010 2010
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.740 1.000 8 2008 2018
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.740 1.000 8 2008 2018
dbSNP: rs11649743
rs11649743 		0.925 0.080 17 37714971 intron variant A/G snv 0.85
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.730 1.000 5 2011 2019
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.730 1.000 3 2011 2018
dbSNP: rs3760511
rs3760511 		0.925 0.080 17 37746322 upstream gene variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.720 1.000 3 2008 2018
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 3 2010 2019
dbSNP: rs121918672
rs121918672 		0.925 0.200 17 37731814 stop gained G/A snv
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.710 1.000 4 2002 2015
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2017 2017
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 2 2011 2012
dbSNP: rs757210
rs757210 		0.807 0.160 17 37736525 intron variant C/G;T snv
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 2 2013 2015
dbSNP: rs4795218
rs4795218 		0.925 0.120 17 37718512 intron variant A/G snv 0.82
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.710 < 0.001 1 2018 2018
dbSNP: rs113042313
rs113042313 		1.000 0.200 17 37710601 missense variant C/T snv 1.4E-04 4.9E-04
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006
dbSNP: rs144425830
rs144425830 		1.000 0.200 17 37744659 missense variant C/A snv 5.8E-04 6.1E-04
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 1.000 10 1999 2006