rs137853240, HNF1A

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 SusceptibilityMutation CLINVAR
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE Furthermore, G319S had specificity and positive predictive value of 97% and 95%, respectively, for developing type 2 diabetes by age 50. 12726923 2003
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, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE A common variant, G319S, private to the Oji-Cree population, predisposes to type 2 diabetes, but the role of common HNF1alpha variation in European populations has not been comprehensively assessed. 16046319 2005
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 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 Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE Among the Oji-Cree of northern Ontario, we previously identified a novel variant in the HNF1A gene, namely G319S, that was strongly associated with type 2 diabetes. 10843190 2000
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE Because HNF-1alpha is involved in the transcription of several apolipoprotein genes, we tested for an association between the private HNF1A G319S variant and plasma lipoproteins in a sample of 55 unrelated Oji-Cree subjects with type 2 diabetes and 175 unrelated Oji-Cree subjects without type 2 diabetes. 10634821 2000
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 Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree. 10807546 2000
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
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 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
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
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, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 GeneticVariation BEFREE The G319S HNF1A variant is associated with an increased risk of type 2 diabetes in the Canadian Oji-Cree population. 18586913 2008
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
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
0.800 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 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
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 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
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