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: rs1057517744
rs1057517744 		1.000 0.200 17 37739443 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 0.700 1.000 8 2004 2016
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: rs1057524479
rs1057524479 		1.000 0.200 17 37699168 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 0.700 0
dbSNP: rs10908278
rs10908278 		0.925 0.160 17 37739961 intron variant A/C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10908278
rs10908278 		0.925 0.160 17 37739961 intron variant A/C;T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2011 2011
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: 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: 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: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs11263763
rs11263763 		0.882 0.200 17 37743574 intron variant A/G snv 0.43
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
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: 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: rs11649743
rs11649743 		0.925 0.080 17 37714971 intron variant A/G snv 0.85
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2011 2018
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2016 2018
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: 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: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
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: 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