Disease Variant Store

Variant filter

Query by chromosomal coordinate (up to 10kbp)

Query by vkey (up to 100 vkeys)

Query by dbSNP ID

Query by HGNC gene symbol

Show only variants that passed filtering criteria

Show only variants that occur in a disease cohort

Disease filter

Choose one or more disease populations ...

... to show variants that occur in at least one of them

Query by coordinates

Queries by coordinates will be limited to the first 10,000 base pairs of the given region. Searches are currently limited to hg19/GRCh37.

Query by variant key

You can use our Python package to generate variant keys ('vkeys') for your variants using chr. location and alternate allele. Submit up to 100 vkeys in a batch to fetch matching variants in DIVAS.

Query by gene

To search DIVAS for variants in a given gene, please use HUGO nomenclature for gene symbols. Optionally, add a protein change in HGVS syntax. Gene queries will include a 5kbp flanking region around the gene. Returned variants will be mapped to any transcript that occurs in that region. Queries for entire genes can take a few seconds.

Filters

By default, the results will include only variants that passed filtering criteria as defined by the underlying original study. Such filtering criteria often include coverage and mapping quality. If you want to see all variants, even those that did not pass all filters, uncheck the box for "Show only variants that passed filtering criteria".