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 - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene RYR1. Remove filter

9 entries on 1 page. Showing entries 1 - 9.

Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/RYR1		 Jorge Oliveira & Johan den Dunnen
Institute of Health Research and Innovation (IBMC/i3S)
private		 - - LOVD 3.X 2019-12-30
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RYR1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RYR1[gene]
- - ClinVar 2020-01-06
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/RYR1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/RYR1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/RYR1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/RYR1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/RYR1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01