rs137853240, HNF1A

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pre-Gestational Diabetes
CUI: C3828492
Disease: Pre-Gestational Diabetes
0.010 GeneticVariation BEFREE The Metabolic Phenotype of Youth Onset Type 2 Diabetes: The Role of Pregestational Diabetes Exposure and the Hepatic Nuclear Factor 1Alpha G319S Polymorphism. 27087001 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE The HNF1A G319S carrier status was associated with incident type 2 diabetes (odds ratio [OR] 3.78 [95% CI 2.13-6.69]) after adjustment for age, sex, hypertension, triglyceride, HDL cholesterol, and waist circumference. 21208426 2011
Diabetes in children
CUI: C3826457
Disease: Diabetes in children
0.010 GeneticVariation BEFREE Progress to date in the molecular genetics of T2DM in youth is limited to one population, the Oji-Cree Native Canadians, where the private variant - G319S - a variant of HNF1A strongly predisposes to diabetes in children as well as in adults. 17991132 2007
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.010 GeneticVariation BEFREE The adjusted odds ratio (OR) and 95% confidence interval for Type 2 diabetes among subjects who carried the HNF1A G319S mutation and had the modified metabolic syndrome (excluding hyperglycaemia) was 20.3 (6.94, 59.6). 16241915 2005
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.010 GeneticVariation BEFREE The risk of Type 2 diabetes was similar (approximately five-fold increased) for subjects with either the presence of the modified metabolic syndrome or the private HNF1A G319S mutation. 16241915 2005
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE The influence of exposure to diabetes in utero and the HNF-1α G319S polymorphism on the metabolic phenotype of youth with T2DM at diagnosis is unknown. 27087001 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE The influence of exposure to diabetes in utero and the HNF-1α G319S polymorphism on the metabolic phenotype of youth with T2DM at diagnosis is unknown. 27087001 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE When participants were stratified by baseline smoking status, HNF1A G319S carriers who were active smokers had increased risk of developing diabetes (OR 6.91 [95% CI 3.38-14.12]), while the association was attenuated to non-significance among non-smokers (1.11 [0.40-3.08]). 21208426 2011
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE All of the 7 offspring with diabetes have 1 or 2 copies of the G319S polymorphism. 21429061 2011
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE When participants were stratified by baseline smoking status, HNF1A G319S carriers who were active smokers had increased risk of developing diabetes (OR 6.91 [95% CI 3.38-14.12]), while the association was attenuated to non-significance among non-smokers (1.11 [0.40-3.08]). 21208426 2011
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE All of the 7 offspring with diabetes have 1 or 2 copies of the G319S polymorphism. 21429061 2011
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE We aimed to investigate whether CRP was mediating the association between HNF1A G319S and type 2 diabetes in an Aboriginal Canadian population with a high prevalence of diabetes. 20716378 2010
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE We aimed to investigate whether CRP was mediating the association between HNF1A G319S and type 2 diabetes in an Aboriginal Canadian population with a high prevalence of diabetes. 20716378 2010
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE A combination of abnormal splicing and reduced activity of the G319S protein may explain the diabetes susceptibility. 18586913 2008
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE A combination of abnormal splicing and reduced activity of the G319S protein may explain the diabetes susceptibility. 18586913 2008
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE Sigmoidal modeling showed that each dose of the G319S allele accelerated the median age of diabetes onset by about 7 yr. 12726923 2003
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE Sigmoidal modeling showed that each dose of the G319S allele accelerated the median age of diabetes onset by about 7 yr. 12726923 2003
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE The demonstration of a functional consequence for HNF1A G319S provides a mechanistic basis for its strong association with Oji-Cree type 2 diabetes and its unparalleled specificity for diabetes prediction in these people, in whom diabetes presents a significant public health dilemma. 11904371 2002
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE The demonstration of a functional consequence for HNF1A G319S provides a mechanistic basis for its strong association with Oji-Cree type 2 diabetes and its unparalleled specificity for diabetes prediction in these people, in whom diabetes presents a significant public health dilemma. 11904371 2002
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE This makes the HNF1A G319S genotype the most specific predictive genetic test for diabetes in any human population. 11286643 2001
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE This makes the HNF1A G319S genotype the most specific predictive genetic test for diabetes in any human population. 11286643 2001
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.090 GeneticVariation BEFREE Despite the failure of linkage analysis to identify HNF1A as a determinant of type 2 diabetes, we feel justified in interpreting that G319S has a very important pathogenic role in Oji-Cree diabetes, based upon the highly suggestive association studies. 10807546 2000
Diabetes
CUI: C0011847
Disease: Diabetes
0.090 GeneticVariation BEFREE Despite the failure of linkage analysis to identify HNF1A as a determinant of type 2 diabetes, we feel justified in interpreting that G319S has a very important pathogenic role in Oji-Cree diabetes, based upon the highly suggestive association studies. 10807546 2000
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE The HNF1A G319S variant is associated with incident type 2 diabetes in Aboriginal Canadians. 21208426 2011
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE In an Aboriginal Canadian population, a private polymorphism, HNF1A G319S, was associated with increased prevalence of type 2 diabetes. 20716378 2010