Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE We aimed to investigate the relationship of type 2 diabetes with a Gly972Arg (G972R) variant of the <i>IRS-1</i> gene and Gly1057Asp (G1057D) polymorphism of <i>IRS-2</i> gene in the population of Punjab, Pakistan. 31404179

2019

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE The aim of our study was to investigate whether common polymorphisms in the genes regulating the early insulin signalling pathway (insulin; A-23T, insulin-like growth factor 1 receptor [IGF-1R]; GAG1013GAA, plasma cell membrane glycoprotein 1 [PC-1]; K121Q, insulin receptor substrate [IRS-1]; G972R, insulin receptor substrate 2 [IRS-2]; G1057D and phosphatidylinositol 3-kinase p85 alpha [PI3K]; M326I) affect the weight change and development of Type 2 diabetes in the Finnish Diabetes Prevention Study. 15127203

2004

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE This meta-analysis suggested that D allele of G1057D polymorphism have a significant effect on reduced risk of T2DM, and obesity is a modifier of this association. 25959789

2015

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE The effect of the Gly1057Asp mutation on type 2 diabetes and obesity was tested in a large cohort of Pima Indians (n = 998). 12765968

2003

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE Polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, IRS-1 (Gly(972)Arg) and IRS-2 (Gly(1057)Asp), influence susceptibility to type 2 diabetes. 12213887

2002

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE These results strongly argue against a major role of the Gly1057Asp IRS-2 polymorphism in the pathogenesis of type 2 diabetes in Djerbian subjects. 19332049

2009

dbSNP: rs1181860747
rs1181860747
0.070 GeneticVariation BEFREE We investigated the significance of Gly1057Asp and Leu647Val insulin receptor substrate (IRS)-2 polymorphisms in two Italian cohorts comprising 186 glucose-tolerant subjects and 240 subjects with type 2 diabetes from the Lazio region (i.e. representative of central Italy), and 123 glucose-tolerant subjects from the Sicily region (i.e. representative of south Italy). 12519871

2003

dbSNP: rs121913150
rs121913150
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013

dbSNP: rs121913150
rs121913150
0.800 GeneticVariation UNIPROT [Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes]. 1470163

1992

dbSNP: rs121913150
rs121913150
0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012

dbSNP: rs121913150
rs121913150
0.800 GeneticVariation UNIPROT Frequency of mutations of insulin receptor gene in Japanese patients with NIDDM. 7657032

1995

dbSNP: rs121913150
rs121913150
0.800 GeneticVariation UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076

1992

dbSNP: rs121913150
rs121913150
T 0.800 CausalMutation CLINVAR

dbSNP: rs1366600
rs1366600
0.020 GeneticVariation BEFREE Our result suggested that INSR rs1366</span>600, ACSL1 rs2292899 and FABP2 rs11724758 could influence the susceptibility to T2DM in Chinese Han population, most likely through their effects on the specific miRNA-binding sites and functional characterizations of three genes are needed. 23303383

2013

dbSNP: rs1366600
rs1366600
0.020 GeneticVariation BEFREE Our study showed that the miRNA binding site polymorphism rs1366600 located at the 3'-UTR region of the INSR gene is associated with increased risk of T2DM in Bangladeshi individuals. 29971619

2019

dbSNP: rs1799816
rs1799816
0.010 GeneticVariation BEFREE The analyses revealed that INS (rs689) polymorphism conferred risk towards T2D susceptibility in all the three ethnic groups whereas INSR (rs1799816) polymorphism conferred risk towards T2D in Brahmins only and PP1G.G (rs1799999) polymorphism indicated T2D risk in Jat Sikhs only. 26251103

2016

dbSNP: rs182552223
rs182552223
0.700 GeneticVariation UNIPROT

dbSNP: rs2059806
rs2059806
0.020 GeneticVariation BEFREE Combination analysis revealed that rs2059806 and rs7212142 had a combined effect on susceptibility to type 2 diabetes mellitus and diabetic nephropathy. 25867326

2015

dbSNP: rs2059806
rs2059806
0.020 GeneticVariation BEFREE This study postulates that this reflects a common genetic cause, and investigates whether the INSR rs2059806 single nucleotide polymorphism (SNP) (a risk factor for essential hypertension, type 2 diabetes and metabolic syndrome) is also associated with pre-eclampsia. 28117222

2017

dbSNP: rs756025720
rs756025720
0.010 GeneticVariation BEFREE Although the prevalence of each of these polymorphisms was not statistically different between NIDDM and control subjects, the prevalence of the four IRS-1 polymorphisms with an amino acid substitution together was significantly higher in NIDDM than in control subjects (23.4 vs 8.5%, p < 0.05), and two substitutions (Met 209 --> Thr and Ser809 --> Phe) were found only in NIDDM patients. 8739921

1996