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News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0).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)
SCN1A -1.43 (4.03%) 2.38% 3.82E-12 -2.2415 (2.3754%) N (7.8736%)
ATP1A3 -1.53 (3.37%) 2.16% 6.57E-05 -1.8186 (3.9101%) N (0.5789%)
HLA-A 8.93 (99.96%) 99.93% 0.1784101 6.2157 (99.8534%) N (91.5012%)
MTOR -3.49 (0.34%) 0.09% 1.28E-13 -4.7153 (0.2151%) N (4.3189%)
MUC5B 16.52 (99.98%) 99.97% 1.38E-13 15.8302 (99.9707%) N (45.2788%)
Download

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Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).

Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017).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.

Pipelines known to incorporate RVIS