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News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0).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).
Examples - Gene: SCN1A, Gene list: SCN1A, ATP1A3, HLA-A, MTOR, MUC5B (comma delimited), All.Gene
| GENE | RVIS | %ExAC RVIS | ExAC LoF FDR | %ExAC v2 RVIS | Edge Case (%OE-ratio) |
|---|---|---|---|---|---|
| CDK2AP1 atavdb | -0.03 (51.04%) | 58.16% | 0.4218447 | 0.0071 (49.7556%) | Y (10.6872%) |
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Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).
Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017).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.
