Paste a list of max. 10 variants using coordinates and ref/alt alleles. Alternatively, enter a chromosomal region to retrieve all variants found in that region.
Example for a single nucleotide variant: chr7:140453136A>T
Example for a chromosomal region: 7:140430000-140440000 — we accept regions of up to 10,000bp.
Enter up to 10 dbSNP IDs (rs numbers).
Enter up to 10 genes using HGNC symbols, and optionally describe the variant(s) you want to search for.
We accept HGVS nomenclature for specific CDS and protein changes, such as "c.1234A>C" or "p.Val600Glu" (three-letter code for amino acids, '*' for stop codon). Use a question mark ('?') as a wild card: to find all variants of BRAF valine 600, gene="BRAF" and variant="p.Val600?", which will return amino acid changes as well as matching indels, stop gained variants, etc.
You can also describe variants using the following keywords: deletion, insertion, stop gained, stop lost, frameshift, inframe, as well as "exon (number)". All keywords have to be separated by a comma from each other. Example: gene="TP53", variant="exon 5, frameshift, deletion". Keywords will overwrite settings for exonic, non-synonymous, where applicable.
Enter a phenotype or the name of a disease. We will search our database for known associations between any genetic variant and that phenotype/disease.
You can limit your search to a particular gene, using a HGNC symbol.
Queries by cohort will enable you to quickly run a differential mutation analysis by comparing cohorts. You can put together a "case" and a "control" group based on several studies, including populations where available. Select up to ten genes and we will search RVS for all variants in those genes (up to 5kbp up/downstream) that differ between the two groups.
While the basic functionality including populations indicated below is working, we are still developing this exploratory tool further; particularly, to include more (public) disease data.