DEAFNESS VARIATION DATABASE

Looks like you’re a first-time visitor! We strongly recommend reading through our help page to get started. You can always find a link to that page in the sidebar.

ANNOUNCEMENT: DVD v3 is now available!

The Molecular Otolaryngology & Renal Research Lab (MORL) Deafness Variation Database (DVD) provides a comprehensive guide to genetic variation in genes known to be associated with deafness. It includes all known genetic variants present in any gene that is included on OtoSCOPE®, the MORL’s comprehensive genetic deafness screening platform. This facilitates variant analysis.

The data in the MORL DVD are based on publicly available data and data from OtoSCOPE®. It also incorporates phenotypic information from the AudioGene machine-learning based audiometric profiling tool.

The goal of the DVD is to collate and annotate every variant in every deafness gene. The sources of all DVD v3 variants can be found here.

DVD categorization is based on the following criteria:

Benign
Previously reported benign variants or variants with MAF ≥ 0.005
Probable benign
Classified as such by ClinVar and/or MORL
Predicted benign
Variants with a MAF < 0.005 and with low pathogenicity prediction score
Predicted pathogenic
All variants with a MAF < 0.005 and with high pathogenicity score
Probable pathogenic
Classified as such by ClinVar and/or MORL
Pathogenic
Previously reported pathogenic variants
Variant of unknown significance (VUS)
All variants without enough information (i.e. MAF, prediction data)

This categorization is specific for non-syndromic hearing loss only and may not be applicable to other diseases or conditions. All categorizations noted with an asterisk (*) reflect changes made by the curators of DVD based on MAF as described in the following publication:

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, et al. Utilizing ethnic-specific differences in minor allele frequency to re-categorize reported pathogenic deafness variants. Am J Hum Genet 2014.

The DVD was built using the freely available Cordova variation database management software which is described in the following publication:

Ephraim SS, Anand N, et al. Cordova: Web-based management of genetic variation data. Bioinformatics 2014.

The DVD is updated regularly. If you would like to add a gene or variant to the database, please email MORL-dvd@uiowa.edu or contact us online.

These data are freely available. When including information from the DVD in publication, please cite this URL and the date accessed. All content is copyrighted by the MORL at The University of Iowa.

To view or utilize this site, you must agree to the citation policy above.