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 SMN1. Remove filter

5 entries on 1 page. Showing entries 1 - 5.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/SMN1
Johan den Dunnen
private
Rating: 4Rating: 4Rating: 4Rating: 4 78 LOVD 3.X 2020-06-17
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=SMN1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 173 ClinVar 2020-08-03
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/SMN1
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 38 LOVD 3.X 2017-06-30
ALS Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG6606
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 0000-00-00
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/SMN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
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