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