RVS_the Reference Variant Store

The Reference Variant Store holds information on more than 470 million genetic variants using various methods of annotation. Sources for variants in RVS are re-sequencing projects such as the 1000 Genomes, ESP6500, UK10K, TCGA, Scripps Wellderly; clinical annotation databases such as ClinVar and HGMD; and hypothetical, amino-acid changing single-point mutations from dbNSFP. We provide annotations on low level effects, phenotypes and diseases, population frequencies, and predictive functional impact scores.

Visit RVS: https://rvs.u.hpc.mssm.edu/