Disease Variant Store

The Disease Variant Store provides information on genetic variants observed in various disease populations. Users can quickly obtain frequencies, functional annotations, and known disease annotations by performing simple queries.

Data Sources

Frequency Data Sources

DIVAS is currently based on the following sequencing and genotyping studies:

Functional Impact Sources

DIVAS uses snpEff for all functional impact annotations, using GRCh37.75 as the reference genome. We also provide predictions based on various tools, such as SIFT and MutationAssessor; precomputed by dbNSFP.

DIVAS contains variants for 58434 genes, pseudogenes, and other non-coding regions, for which transcripts are available from either ENSEMBL or RefSeq.

Known Disease Associations

The known disease associations were obtained from ClinVar and OMIM. SwissVar annotations provide further details on disease associations and functional impact, such as from mutagenesis experiments. HGMD annotations are visible to Mount Sinai users.

Variant Statistics