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: rs11658063
rs11658063 		0.851 0.120 17 37743881 intron variant G/C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11658063
rs11658063 		0.851 0.120 17 37743881 intron variant G/C;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11658063
rs11658063 		0.851 0.120 17 37743881 intron variant G/C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12951345
rs12951345 		1.000 0.120 17 37717865 intron variant C/A snv 0.80
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3110641
rs3110641 		17 37687414 intron variant G/A snv 0.32
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 2 2018 2019
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs11263761
rs11263761 		1.000 0.080 17 37737784 intron variant A/G snv 0.44
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17138478
rs17138478 		17 37713312 intron variant C/A;T snv 0.11
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
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: rs4795218
rs4795218 		0.925 0.120 17 37718512 intron variant A/G snv 0.82
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs758130759
rs758130759 		0.925 0.120 17 37699149 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs758130759
rs758130759 		0.925 0.120 17 37699149 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2018 2018
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
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: 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
dbSNP: rs1057519371
rs1057519371 		0.925 0.200 17 37710576 frameshift variant -/G delins
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 1 2017 2017
dbSNP: rs11263761
rs11263761 		1.000 0.080 17 37737784 intron variant A/G snv 0.44
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11651052
rs11651052 		0.851 0.200 17 37742390 intron variant G/A snv 0.50
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2017 2017
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017