Human Genetic Variation Repository

HGVD provides a searchable catalog of genetic variants and allele frequencies focused on the Japanese population.

hgvd.genome.med.kyoto-u.ac.jp/index.html
Human Genetic Variation Repository homepage screenshot

About Human Genetic Variation Repository

The Human Genetic Variation Database (HGVD) is a browsable catalogue of genetic variations and allele frequencies focused on the Japanese population. Users can search by gene name/ID or dbSNP rsID, or view variants by chromosome in GRCh37/hg19, with GRCh38/hg38 and T2T/CHM13 coordinates provided through LiftOver from GRCh37/hg19. The site also notes bulk downloads of genotype count and Cis-eQTL data, and HGVD version 3.0 was released in October 2025. A related paper covering whole-genome sequencing of 3,135 individuals representing Japanese genetic diversity was published in November 2025.

Key features

  • Search by gene name/ID or dbSNP rsID
  • Browse variants by chromosome in GRCh37/hg19
  • View GRCh38/hg38 coordinates via LiftOver from GRCh37/hg19
  • View T2T/CHM13 coordinates via LiftOver from GRCh37/hg19
  • Bulk download of genotype count data
  • Bulk download of Cis-eQTL data
Best for: Researchers studying genetic variation and allele frequencies in the Japanese population.
Good for
  • Searchable by gene name/ID or dbSNP rsID
  • Supports multiple genome build coordinate views
  • Offers bulk downloads of genotype count and Cis-eQTL data
Watch out for
  • Focused on the Japanese population
  • GRCh38/hg38 and T2T/CHM13 coordinates are LiftOver conversions from GRCh37/hg19
  • Commercial licensing was transferred to GenoConcierge Kyoto

Human Genetic Variation Repository at a glance

Type
Website
Pricing
Not confirmed. Check the site
Platforms
Web
Open source
Not stated
Language
English
Last checked
Oct 6, 2026 · Online when checked
Listed
Oct 5, 2026

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Human Genetic Variation Repository FAQ

What population does HGVD focus on?
HGVD provides a browsable catalogue of genetic variations and allele frequencies focused on the Japanese population.
Which genome builds can I view?
The viewer supports chromosomes in GRCh37/hg19, GRCh38/hg38, and T2T/CHM13. GRCh38/hg38 and T2T/CHM13 are provided via LiftOver from GRCh37/hg19.
Can I download data from HGVD?
The site notes availability of bulk download for genotype count data and Cis-eQTL data, and states that HGVD version 2.3 is downloadable.
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