Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800574
rs1800574
0.850 GeneticVariation BEFREE We hypothesized that common variants at the <i>HNF1A</i> locus (rs1169288 [I27L], rs1800574 [A98V]), which are associated with type 2 diabetes susceptibility, may modify age at diabetes diagnosis in individuals with HNF1A-MODY. 29895593

2018

dbSNP: rs1800574
rs1800574
0.850 GeneticVariation BEFREE The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM). 24933231

2015

dbSNP: rs1800574
rs1800574
0.850 GeneticVariation BEFREE Significant associations between the heterozygote A98V genotype and clinical parameters of insulin metabolism were reported but no relationship with type 2 diabetes was obtained. 18777455

2008

dbSNP: rs1800574
rs1800574
0.850 GeneticVariation BEFREE We studied the effect of four common polymorphisms (rs1920792, I27L, A98V and S487N) in and upstream of the HNF-1alpha gene on transcriptional activity in vitro, and their possible association with type 2 diabetes and insulin secretion in vivo. 17033837

2006

dbSNP: rs1800574
rs1800574
0.850 GeneticVariation BEFREE Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes. 15277395

2004

dbSNP: rs137853240
rs137853240
0.800 GeneticVariation BEFREE The HNF1A G319S variant is associated with incident type 2 diabetes in Aboriginal Canadians. 21208426

2011

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
0.800 GeneticVariation BEFREE The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. 16276364

2006

dbSNP: rs137853240
rs137853240
0.800 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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
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

dbSNP: rs137853240
rs137853240
0.800 GeneticVariation BEFREE Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree. 10807546

2000

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE The Common <i>HNF1A</i> Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY. 29895593

2018

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE Mutation p.T130I was associated with both early-onset and late-onset diabetes and caused downregulated HNF4A expression, whereas HNF1A polymorphisms p.I27L and p.S487N were associated with the age of diagnosis of diabetes. 26981542

2016

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE These findings suggest that the HNF1A p.I27L (rs1169288) variant may be a significant risk factor of T2DM in normal-weight subjects and that earlier inconsistent results may have been due, in part, to subjects' weight status. 24933231

2015

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. 24062323

2014

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE In contrast, 33.3% of patients with type 2 diabetes mellitus and I27L polymorphism in the HNF1alpha gene had no family history of diabetes (p < 0.05). 20172480

2010

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE The polymorphism rs1169288 in HNF-1alpha strongly predicted future type 2 diabetes (hazard ratio [HR] 1.2, P = 0.0002). 18332101

2008

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE Amongst non-obese individuals, we observed significant T2D associations with HNF1A I27L [odds ratio (OR) = 1.14, P = 0.04], GCK -30G>A (OR = 1.23, P = 0.01), SLC30A8 R325W (OR = 0.87, P = 0.04), and TCF7L2 rs7903146 (OR = 1.89, P = 4.5 x 10-23), and non-significant associations with PPARG Pro12Ala (OR = 0.85, P = 0.14), ADIPOQ -11,377C>G (OR = 1.00, P = 0.97) and ENPP1 K121Q (OR = 0.99, P = 0.94). 18498634

2008

dbSNP: rs1169288
rs1169288
0.780 GeneticVariation BEFREE In a new case-control (n = 1,511 and n = 2,225 respectively) data set, the I27L polymorphism was associated with increased risk of type 2 diabetes, odds ratio (OR) = 1.5 (p = 0.002; multiple logistic regression), particularly in elderly (age > 60 years) and overweight (BMI > 25 kg/m(2)) patients (OR = 2.3, p = 0.002). 17033837

2006