Human Variation Database HELP

"Human Variation Database" is a repository database to achieve continuous and intensive management of GWAS data and variation data identified by NGS and data-sharing among researchers and has widely called for data submission. In this database, variations including short/long insertions/deletions and structural variations related to disease susceptibility, virus resistance, and drug response are registered along with statistical genetic results and simple clinical characteristics to clarify the locus specific characteristics. In order to collect known variation data, variations extracted from scientific literatures by manual curation. Currently, almost data in this database are literature base data.

Supported browsers

This database supports Windows IE 6.0 and above, Safari 3.1 and above, and Firefox 2.0 and above.

About statistical data

There are no statistical thresholds to accumulate variations. All submitted data and described data in scientific papers are registered with the information of positve/negative disease relationships

About database version

When there is no comments in study_details, dbSNP ver.133 and human genome build ver.hg19 are used.

Copy number variation data is imported from
Microsatellite data is imported from


If you have any questions, please send an e-mail to gwas at_mark biosciencedbc dot jp.

How To Use

Since accumulated data are not enough, we recommed "browse by disease name", "browse by gene name".