Chromosome - 3 SNP - rs1801725 Gene Name - CASR

Basic Information

  • SNP rs1801725
  • Chromosome 3
  • Gene Name CASR
  • Weight of evidence 83
Genotype Frequency
  • GG
  • GT
  • TT
Allele Frequency
  • G
  • T

SNP Expression Description

How does this fit in to your daily life?

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.

General SNP Description

This SNP is associated with higher lumbar spine BMD within the lowest birthweight tertile. Mildly inactivating variant of this SNP are also associated with clinical stage neuroblastoma. This SNP is also reported to correlate with the level of serum calcium in both Caucasian and Indian-Asian populations. The gene’s  function is linked to sensing changes in the extracellular concentration of calcium ions and this gene is expressed in the parathyroid hormone producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. Mutations in this gene cause Familial Hypocalciuric Hypercalcemia, Familial, Isolated Hypoparathyroidism, and Neonatal Severe Primary Hyperparathyroidism. For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.