Chromosome - 12 SNP - rs3184504 Gene Name - SH2B3

Basic Information

Genotype Frequency
  • CT
  • CC
  • TT
Allele Frequency
  • C
  • T

SNP Expression Description

How does this fit in to your daily life?

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General SNP Description

This SNP is considered to be one of the most significant in Celiac Disease. This SNP is also associated with Type 1 Diabetes, Coronary Artery Disease, Heart Attack, Rheumatoid Arthritis and Systemic Lupus Erythematosus. The function of this gene is involved in a range of signaling activities by growth factor and cytokine receptors. Mutations of this gene have been associated with susceptibility to Celiac Disease Type 12 and susceptibility to insulin-dependent Diabetes Mellitus.