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
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
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