A Resource for Pharmacogenetics
 

Resources include lymphoblastoid cell lines and DNA samples, which are available through the NIGMS Human Genetics Cell Repository (HGCR). The genotypes have been obtained from dbSNP, PharmGKB, International HapMap Project, and the SNP500 Cancer Project as well as publications and independent researchers.

The genes of pharmacogenetic interest for which there are determined mutations are shown below. Click on

  • Gene Name to show variants with samples in the catalog
    • Gene mutation to show samples in catalog with that mutation
    • SNP Finder to indicate samples in the catalog with data on that SNP
  • PharmGKB Link to link to extensive information about this gene
  • Entrez Gene Link to connect to NCBI Page
  • SNP Finder to identify all SNPs for this Gene; click on rs# to find Coriell samples with this SNP.
  • Repository samples with pharmacogenetic variants verified by sequencing   Download Excel File Format