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: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
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: 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: 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: 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: rs11658063
rs11658063 		0.851 0.120 17 37743881 intron variant G/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11651755
rs11651755 		0.763 0.160 17 37739849 intron variant T/C snv 0.52
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2013 2017
dbSNP: rs7405776
rs7405776 		0.807 0.120 17 37733029 intron variant G/A;C snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs757210
rs757210 		0.807 0.160 17 37736525 intron variant C/G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587776771
rs587776771 		0.925 0.240 17 37744839 frameshift variant G/- delins
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: rs7405776
rs7405776 		0.807 0.120 17 37733029 intron variant G/A;C snv
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991 		0.708 0.280 17 37741642 intron variant T/A;G snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 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: rs1282596664
rs1282596664 		1.000 0.040 17 37731616 missense variant A/G snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs4430796
rs4430796 		0.790 0.280 17 37738049 intron variant A/G snv 0.52
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2010 2010