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 PSEN1. Remove filter

10 entries on 1 page. Showing entries 1 - 10.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PSEN1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 533 ClinVar 2024-04-06
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PSEN1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 237 LOVD 3.X 2024-01-23
Coppola Lab - GIFT Variant Database
https://coppolalab.ucla.edu/lovd_gift/genes/PSEN1
Ariane Ayer
Coppola lab
Rating: 3Rating: 3Rating: 3Rating: 3 215 LOVD 3.X 2017-10-17
NDDVD - Neurodegenerative Diseases Variation Database
http://sysbio.org.cn/NDDVD/genes/PSEN1
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 193 LOVD 3.X 2017-11-17
Malaysian Node of the Human Variome Project Database
https://myhvpdb.kk.usm.my/genes/PSEN1
MyHVP
Universiti Sains Malaysia
Rating: 1Rating: 1Rating: 1Rating: 1 2 LOVD 3.X 2021-09-09
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/PSEN1
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2014-04-18
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/PSEN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-03
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PSEN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
Alzforum Mutation Database
http://www.alzforum.org/mutations
Kelly Dakin
Alzforum
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 2015-04-15
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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