About RVIS (Residual Variation Intolerance Score) is a gene score based module intended to help in the interpretation of human sequence data.

News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC sequencing data. The ExAC data can be found at (exac.broadinstitute.org).

Examples - Gene: SCN1A, Gene list: SCN1A, ATP1A3, HLA-A, MTOR, MUC5B (comma delimited), All.Gene

GENE RVIS %OEratio %ExAC_OEratio ExAC_LoF_FDR %ExAC_RVIS
BRE 0.35 (74.37%) NA 20.91814159% 0.01773572 13.86%
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Click Here to download the full list of CCDS Release 9 RVIS gene score. Please cite doi: 10.1371/journal.pgen.1003709

Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).

Pipelines known to incorporate RVIS