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: 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: 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: 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: 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: 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: 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: 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: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs3744763
rs3744763 		0.925 0.160 17 37730894 non coding transcript exon variant A/G snv 0.30
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2010 2010
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: rs7209295
rs7209295 		17 37715188 intron variant A/G snv 3.9E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7209295
rs7209295 		17 37715188 intron variant A/G snv 3.9E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7501939
rs7501939 		0.776 0.280 17 37741165 intron variant C/T snv 0.41
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1555833071
rs1555833071 		0.925 0.200 17 37744652 frameshift variant TCGT/- del
CUI: C3280216
Disease: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 		0.700 0
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: 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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
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: 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: 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