rs1801276

This variant is located in the IRS1 gene.

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ClinVar annotation

Benign★★★☆
5 submitters1 publication

Type 2 diabetes mellitus; not specified; IRS1-related disorder; not provided

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Research that mentions this SNP (1)

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Insulin receptor substrate‐2 gene variants in subjects with metabolic syndrome: Association with plasma monounsaturated and n‐3 polyunsaturated fatty acid levels and insulin resistance
AssociationN=131Pablo Perez‐Martinez et al.(2012)· Molecular Nutrition & Food Research

Case-control study of 100 metabolic syndrome patients and 31 controls found IRS-1 G972R (rs1801278) and IRS-2 polymorphisms associated with metabolic syndrome (p<0.0001 and p=0.0001 respectively), but no correlations between these variants and individual MetS components including blood pressure, triglycerides, or HDL/LDL cholesterol levels.

Traits studied:Abdominal ObesityCardiovascular DiseaseDyslipidemiaHypertensionImpaired Glucose ToleranceInsulin ResistanceMetabolic SyndromeObesityType 2 Diabetes Mellitus
PubMedDOIMetascience Observatory

About IRS1

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

View all IRS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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