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How do I use Gene records at NCBI to find and download all SNPs that are associated with a human gene?

A convenient way to access and download short variants (SNPs) reported for an individual gene is through records in the Gene database:

  • Locate the record in the Gene database (example).
  • From the Related information section on the right side of the page, select the SNP link to access variants that are either located within the gene locus or in the surrounding chromosome region of 2000 base pairs upstream and 500 base pairs downstream from the gene.
  • Use the Send to link — located at the top right of the search result page — and select File and one of the available formats.