Collect, Share and Utilize the data of Japanese Pathogenic Variants

About this project

This site provides comprehensive information about genomic variants and diseases related with the variants.

The data of conditions(diseases) with known genetic causes is from MedGen and Orphanet.

What's new

2018/10/31
344 variants were added.
2018/09/12
136 variants were added.
2018/07/25
308 variants are added. These variants were detected among a group of 300 centenarians by NGS and has not been confirmed by Sanger sequence. Considering that these individuals lives longer than 100 years, these variants could be considered "Benign" regardless of the allele frequency. However, no functional evaluation has been performed.
2018/06/13
95 variants were added.
2018/04/24
27 variants were added.
2018/03/30
212 variants were added.
2018/01/30
281 variants were added.
2017/12/26
Metadata of registered variants were updated and new variants were added.
2017/03/31
New user interface for data submission was released.
2016/03/31
variants submission was released.
2016/03/03
update security.
2016/02/24
limited site released.
2016/02/04
test site released.

Statistics

Variants
2582
Diseases
300
Genes
329