Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2144908
rs2144908
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Meta-analysis showed only rs266729 and rs17300539 of ADIP</span>OQ, and rs1884613, rs2144908, and rs4810424 of HNF4A were significantly associated with T2D risk. 30860284

2019

dbSNP: rs2071197
rs2071197
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE Minor allele frequency of rs1884614 and rs2071197 was significantly lower in early onset T2DM when compared to NGT subjects (p < 0.01). 21062274

2011

dbSNP: rs952497863
rs952497863
Diabetes Mellitus, Non-Insulin-Dependent
0.070 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: rs753285226
rs753285226
Diabetes Mellitus, Non-Insulin-Dependent
0.020 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: rs1223493898
rs1223493898
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Neither PPARG2 Pro12Ala nor any of the nine HNF4A SNPs were independently associated with type 2 diabetes-related quantitative traits. 18162503

2008

dbSNP: rs952497863
rs952497863
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE Our data are consistent with T130I as a low-frequency variant influencing type 2 diabetes risk, but are not conclusive when judged against stringent standards for genome-wide significance. 20878384

2011

dbSNP: rs952497863
rs952497863
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE Previous studies in the Mexican population have shown a high frequency of the Thr130Ile polymorphism and have suggested its important role in the pathogenesis of early-onset type 2 diabetes. 24448600

2014

dbSNP: rs1885088
rs1885088
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The <i>KCNJ11</i> SNP rs5210 was associated with T2DM, the <i>TCF7L2</i> SNP rs11196175 was associated with BMI and cholesterol and LDL levels, the <i>TCF7L2</i> SNP rs12255372 was associated with BMI and HDL, VLDL and triglyceride levels, and the <i>HNF4A</i> SNP rs1885088 was associated with LDL levels (P<0.05). 28352326

2017

dbSNP: rs3212183
rs3212183
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE The T2DM association in FITM2-R3HDML-HNF4A (rs3212183; P = .0002; OR = 1.19 [1.09-1.30]) was independent from the East Asian lead SNP (rs6017317), which did not associate with T2DM in American Indians. 27862917

2017

dbSNP: rs763010207
rs763010207
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The D76N variant was found in one MODY3 family (S315fsinsA of HNF1alpha) and also in two families with late-onset Type II diabetes. 11270685

2001

dbSNP: rs952497863
rs952497863
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE The T130I mutation in the HNF-4alpha gene might be involved in the development of Type 2 diabetes in the Japanese population. 12669197

2003

dbSNP: rs4812829
rs4812829
Diabetes Mellitus, Non-Insulin-Dependent
0.830 GeneticVariation BEFREE The aim of the current study was to analyze the effect of six type II diabetes GWAS loci rs3923113 (GRB14), rs16861329 (ST6GAL1), rs1802295 (VPS26A), rs7178572 (HMG20A), rs2028299 (AP3S2) and rs4812829 (HNF4A), and an FTO polymorphism (rs9939609) on obesity. 26395551

2016

dbSNP: rs2144908
rs2144908
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The frequencies of the minor alleles were as follows: 19.2% in T2DM vs. 17.6% in controls for rs2144908; and 20.6% vs. 20.1% for rs4810424, respectively. 16523192

2006

dbSNP: rs200985945
rs200985945
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The frequency of PTPN22 polymorphisms in the MODY patients was similar to those in geographically matched healthy populations, with the exception of c.788G>A, the minor allele frequency of which was significantly elevated in the Czech hepatocyte nuclear factor 1-α (HNF1A) MODY patients [odds ratio (OR) 4.8, 95% confidence interval (CI) 2.2-10.7] and the Brazilian MODY patients (OR 8.4, 95% CI 1.8-39.1). 25896041

2015

dbSNP: rs2144908
rs2144908
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The frequency of the minor allele of the rs2144908 was significantly higher in subjects with MODY (p < 0.01) and that of rs736823 was significantly higher in early onset T2DM (p = 0.001). 21062274

2011

dbSNP: rs736823
rs736823
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The frequency of the minor allele of the rs2144908 was significantly higher in subjects with MODY (p < 0.01) and that of rs736823 was significantly higher in early onset T2DM (p = 0.001). 21062274

2011

dbSNP: rs753056119
rs753056119
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The HNF1A mutation p.Pro409His can be considered a mild variant that confers a moderate risk of type 2 diabetes mellitus in heterozygous carriers. 30963309

2019

dbSNP: rs148745312
rs148745312
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The HNF1A mutation p.Pro409His can be considered a mild variant that confers a moderate risk of type 2 diabetes mellitus in heterozygous carriers. 30963309

2019

dbSNP: rs2144908
rs2144908
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The SNPs rs4810424, rs1884613, and rs2144908 were associated with protection against type 2 diabetes without metabolic syndrome (recessive P = 0.018, OR 0.32; P = 0.004, OR 0.25; P = 0.005, OR 0.24, respectively). 21983932

2012

dbSNP: rs1885088
rs1885088
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE These results indicate that the associations of HNF4A rs1885088 with glucose tolerance and rs745975 with insulin secretion are modulated by PA. Our finding therefore suggests that the effect of HNF4A polymorphisms on the risk of T2DM is influenced by PA. 19406499

2009

dbSNP: rs745975
rs745975
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE These results indicate that the associations of HNF4A rs1885088 with glucose tolerance and rs745975 with insulin secretion are modulated by PA. Our finding therefore suggests that the effect of HNF4A polymorphisms on the risk of T2DM is influenced by PA. 19406499

2009

dbSNP: rs952497863
rs952497863
Diabetes Mellitus, Non-Insulin-Dependent
0.070 GeneticVariation BEFREE These results strongly suggest that the high frequency of the T130I polymorphism and its biological relationship with dysfunction in lipid metabolism in Mexican indigenous groups is a risk factor for the developing of T2D in Mexicans. 28688048

2017

dbSNP: rs1223493898
rs1223493898
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE These variants may contribute significantly to the risk type 2 diabetes conferring insulin resistance of liver, muscle and fat (Pro12Ala) and a relative insulin secretory deficiency (Glu23Lys). 15715885

2005

dbSNP: rs2144908
rs2144908
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) near P2 promoter (rs1884614 and rs2144908) of hepatocyte nuclear factor-4alpha (HNF4A) with insulin secretion index and type 2 diabetes in Thais. 17805472

2007

dbSNP: rs3212183
rs3212183
Diabetes Mellitus, Non-Insulin-Dependent
0.030 GeneticVariation BEFREE Three additional variants were associated with T2D: two intronic SNPs (rs4810424: OR: 1.080, 95%CI: 1.010-1.154, p<0.03 and rs3212183: OR: 0.843, 95%CI: 0.774-0.918, p<0.00009) and one missense variant (rs1800961: OR: 0.770, 95%CI: 0.595-0.995, p<0.05, 6562 cases and 6723 controls). 19748811

2010