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News We now provide a revised RVIS gene score (unpublished) based on the recently released ExAC v2 (release 2.0).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%)|
|ATP1A3 atavdb||-1.53 (3.37%)||2.16%||6.57E-05||-1.8186 (3.9101%)||N (0.5789%)|
|HLA-A atavdb||8.93 (99.96%)||99.93%||0.1784101||6.2157 (99.8534%)||N (91.5012%)|
|MTOR atavdb||-3.49 (0.34%)||0.09%||1.28E-13||-4.7153 (0.2151%)||N (4.3189%)|
|MUC5B atavdb||16.52 (99.98%)||99.97%||1.38E-13||15.8302 (99.9707%)||N (45.2788%)|
Click Here to download novel unpublished RVIS gene score based on ExAC sequencing data release (accessed: January 13th 2015 [updated scores for release0.3]).
Click Here to download novel unpublished RVIS gene score based on ExAC v2 release 2.0 (accessed: March 15th 2017).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.