Mechanism:

The C allele= an increase in VEGFA levels and expression [R].

The C (minor) allele is associated with:

  • Increased risk of AMD (age related macular degeneration) [R].
  • a 6.25-fold increased risk of Polypoidal Choroidal Vasculopathy (CC vs TT) while the CT group had a 1.82-fold increased risk (Koreans). [R]
  • Lower likelihood of Diabetic retinopathy (DR) ,which accounts for 8% of legal blindness in the United States [R].
  • An increased survival rate in children after surgery for Congenital Heart Disease (CHD) [R]

  • An increased overall survival rate in children with severe CHD [R].

  • A 5-fold increased risk of developing Age-related Macular Degeneration (AMD) [R]

  • The severity and/or presence of Diabetic Retinopathy (DR), a diabetic complication affecting the eye [R], in Chinese patients with type 2 diabetes [R]

The “T” (major) allele is associated with:

  • Tetralogy of Fallot (TOF) [R], a medical condition caused by four congenital heart defects [R]

  • Transposition of the Great Arteries (TGA) [R], a congenital heart defect where the two main arteries of the heart are reversed [R]

This SNP is associated with (unknown which alleles):

  • Response to Ranibizumab - an anti-VEGF agent [R]
  • Human brain arteriovenous malformation (BAVM), in which brain tissues contain increased levels VEGFA [R]

rs833069

Parent Gene: VEGFA

Importance: 3
Less common allele: C = 42%
More common allele: T = 58%
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