HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE The results of this study indicate that the use of 8 genetic polymorphisms associated with carbohydrate and lipid metabolism and type 2 diabetes [<i>PTGS2</i> (<i>COX2</i>) rs6681231, <i>FADS1</i> rs174550, <i>HNF1B</i> rs4430796, <i>ADIPOQ</i> rs266729, <i>IL18</i> rs187238, <i>CCL2</i> rs1024611, <i>HHEX</i> rs5015480 and <i>CDKN2A/2B</i> rs10811661] together with clinical risk factors (BMI and age) may significantly improve the prediction of GDM. 31299695 2019
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
A 0.870 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.870 GeneticVariation GWASDB Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B rs4430796 in influencing risk of type 2 diabetes (p < 0.05). 24280871 2014
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.870 GeneticVariation GWASCAT Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480 2014
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.870 GeneticVariation GWASCAT A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. 22961080 2013
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
G 0.870 GeneticVariation GWASDB A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. 22961080 2013
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs729287 (Pc=7.5 × 10(-5)), and HNF1 rs4430796 (P=0.003) were significantly associated with T2DM, with similar effect sizes to those of Europeans. 24145053 2013
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. 22325160 2012
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 was associated with about 30% increase in T2D risk (OR 1.31, 95% CI 1.09-1.57, P = 0.01). 23300827 2012
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes. 21499250 2011
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE Where type 2 diabetes was the outcome, only one statistically significant interaction effect was observed, and this was for the HNF1B rs4430796 variant (P(interaction) = 0.0004). 19324937 2009
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.870 GeneticVariation BEFREE Consistent with the initial study, we observed evidence that the risk G allele of rs4430796 in intron 2 was significantly associated with type 2 diabetes (odds ratio 1.16 [95% CI 1.05-1.29], P = 0.0035, empirical P = 0.0475). 19168595 2009
dbSNP: rs121918673
rs121918673
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873 2013
dbSNP: rs121918673
rs121918673
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs121918673
rs121918673
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation UNIPROT The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5. 12161522 2002
dbSNP: rs121918673
rs121918673
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.810 GeneticVariation BEFREE The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5. 12161522 2002
dbSNP: rs121918673
rs121918673
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
C 0.810 CausalMutation CLINVAR
dbSNP: rs11651052
rs11651052
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
A 0.800 GeneticVariation GWASCAT Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population. 30718926 2019
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0600139
Disease:
Prostate carcinoma
A 0.800 GeneticVariation GWASCAT 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. 31562322 2019
dbSNP: rs11651755
rs11651755
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
C 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs121918675
rs121918675
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0431693
Disease:
Renal cysts and diabetes syndrome
T 0.800 GeneticVariation CLINVAR Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. 29927023 2018
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE Strong significant associations were found between rs4430796 A and the risk of both prostate cancer (OR = 1.247, p = 2.21 × 10<sup>- 77</sup>) and endometrial cancer (OR = 1.217, p = 8.98 × 10<sup>- 16</sup>); the AA, AG genotypes also showed strong significant associations with the risk of prostate cancer (OR1 = 1.517, p = 4.46 × 10<sup>- 22</sup>; OR2 = 1.180, p = 0.002). 30053805 2018
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0600139
Disease:
Prostate carcinoma
0.800 GeneticVariation BEFREE Strong significant associations were found between rs4430796 A and the risk of both prostate cancer (OR = 1.247, p = 2.21 × 10<sup>- 77</sup>) and endometrial cancer (OR = 1.217, p = 8.98 × 10<sup>- 16</sup>); the AA, AG genotypes also showed strong significant associations with the risk of prostate cancer (OR1 = 1.517, p = 4.46 × 10<sup>- 22</sup>; OR2 = 1.180, p = 0.002). 30053805 2018
dbSNP: rs4430796
rs4430796
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
CUI: C0600139
Disease:
Prostate carcinoma
A 0.800 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018