Difference Between Gene Name and Genomic Position Queries in gnomAD

[Shicheng_Guo]

Dear Team,

When querying gnomAD, I typically use the gene name. However, after clicking on the genomic position (from the returned page of gene name query) of the gene, I notice that the list of variants differs from the SNPs list obtained from the gene name-based query.

Could someone clarify the difference between querying by gene name and querying by genomic position?

Thanks,

Shicheng

[majialan]

Hi Shicheng,

When you query by gene name, only variants located in or within 75 base pairs of a coding exon are shown.

I attached a screenshot of the note just below the gnomAD variants section:

If you click on region view, you’ll be directed to the results page without the restriction.