rs137852783, PDX1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.760 GeneticVariation BEFREE The T-allele of the SNP rs12255372 of TCF7L2 (OR = 2.70, 95% CI = 1.12-6.49, P = 0.027) and the A-allele of PDX-1 D76N (OR = 3.93, 95% CI = 1.60-7.68, P = 0.002) were significantly associated with an increased risk of T2DM. 26058934 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.760 GeneticVariation BEFREE So far, this is the largest association study regarding the effect of D76N IPF1 on T2D. 17592437 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.760 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
Diabetes Mellitus, Non-Insulin-Dependent
0.760 GeneticVariation BEFREE We genotyped U.S. Caucasians with (n = 217) and without (n = 176) Type 2 diabetes to determine if three previously identified variants (Cys18Arg, Asp76Asn, Arg197His) in the IPF-1 gene play a role in the development of Type 2 diabetes. 11914043 2002
Diabetes Mellitus, Non-Insulin-Dependent
0.760 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
Diabetes Mellitus, Non-Insulin-Dependent
0.760 GeneticVariation BEFREE In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant. 10720084 2000
Diabetes Mellitus, Non-Insulin-Dependent
0.760 SusceptibilityMutation CLINVAR
Maturity onset diabetes mellitus in young
0.700 GeneticVariation CLINVAR
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.040 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
Diabetes
CUI: C0011847
Disease: Diabetes
0.040 GeneticVariation BEFREE The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes. 15277425 2004
Diabetes
CUI: C0011847
Disease: Diabetes
0.040 GeneticVariation BEFREE Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 +/- 21% and 84 +/- 12% vs. 100%). 10720084 2000
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.040 GeneticVariation BEFREE We did not detect the D76N variant, which was the most frequent variant in subjects with a strong family history of diabetes, in patients or controls. 11022198 2000
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.040 GeneticVariation BEFREE Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 +/- 21% and 84 +/- 12% vs. 100%). 10720084 2000
Diabetes
CUI: C0011847
Disease: Diabetes
0.040 GeneticVariation BEFREE We did not detect the D76N variant, which was the most frequent variant in subjects with a strong family history of diabetes, in patients or controls. 11022198 2000
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.040 GeneticVariation BEFREE The lower penetrance D76N and Q59L mutations were more prevalent and were associated with a relative risk of 12.6 for diabetes and with decreased glucose-stimulated insulin-secretion in nondiabetic subjects. 10545531 1999
Diabetes
CUI: C0011847
Disease: Diabetes
0.040 GeneticVariation BEFREE The lower penetrance D76N and Q59L mutations were more prevalent and were associated with a relative risk of 12.6 for diabetes and with decreased glucose-stimulated insulin-secretion in nondiabetic subjects. 10545531 1999