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News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0).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) |
|---|---|---|---|---|---|
| CCDC78 atavdb | 1.42 (94.97%) | 98.93% | 0.9566399 | 2.6887 (98.7586%) | N (91.2233%) |
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Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).
Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017).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.
