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News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0). The data can be found at (gnomad.broadinstitute.org).
|GENE||RVIS||%ExAC RVIS||ExAC LoF FDR||%ExAC v2 RVIS||Edge Case (%OE-ratio)|
|SCN1A atavdb||-1.43 (4.03%)||2.38%||3.82E-12||-2.2415 (2.3754%)||N (7.8736%)|
Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).
Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017). As of this release we use CCDS release 20 and Ensembl release 87 annotations.