Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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International Symposium on Variants in the Genome 2026
Information Currently active filter: LSDBs for gene EPAS1. Remove filter

7 entries on 1 page. Showing entries 1 - 7.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EPAS1
Mary Frances McMullin & Celeste Bento
Queens University
Hospital Pediatrico de Coimbra
Rating: 3Rating: 3Rating: 3Rating: 3 24 LOVD 3.X 2024-01-23
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EPAS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 1536 ClinVar 2024-05-08
The Globin Gene Server
http://lovd.bx.psu.edu/home.php?select_db=EPAS1
Belinda Giardine & Joseph Borg
Penn State University
University of Malta
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 2.X 2010-07-07
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EPAS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-05
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EPAS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
Erythrocytosis
http://www.erythrocytosis.org/scid/polycythemias_en/
Celeste Bento, Holger Cario, Mary Frances McMullin, François Girodon
Centro Hospitalar e Universitário de Coimbra, Portugal
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 2013-06-20
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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