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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Information Currently active filter: LSDBs for gene ABCA4. Remove filter

6 entries on 1 page. Showing entries 1 - 6.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ABCA4
Stéphanie Cornelis
Radboud University Nijmegen Medical Centre
Rating: 4Rating: 4Rating: 4Rating: 4 2796 LOVD 3.X 2024-02-26
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ABCA4[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 4043 ClinVar 2024-04-06
The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/ABCA4
Lishuang Shen
MEEI
Rating: 2Rating: 2Rating: 2Rating: 2 420 LOVD 3.X 2013-11-13
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ABCA4
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ABCA4
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/files/sci-news/abcrmut.htm
Retina International
Rating: 0Rating: 0Rating: 0Rating: 0 - None (static pages) Unknown
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