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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Genome Scan, Next Generation Sequencing Services
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3028 entries on 31 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
OACYLP BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OACYLP
Admin
BRAINN
- - LOVD 3.X 2018-11-21
OACYLP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OACYLP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OACYLP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OACYLP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OACYLP BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OACYLP
Admin
BRAINN
- - LOVD 3.X 2018-10-15
OACYLP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OACYLP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
OAF ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAF[gene]

- - Other 2014-03-07
OAF BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAF
Admin
BRAINN
- - LOVD 3.X 2018-11-13
OAF BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAF
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAF Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAF
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAF LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAF
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OAF BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAF
Admin
BRAINN
- - LOVD 3.X 2018-10-11
OARD1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OARD1
Admin
BRAINN
- - LOVD 3.X 2018-10-15
OARD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OARD1[gene]

- - Other 2014-03-07
OARD1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OARD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OARD1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OARD1
Admin
BRAINN
- - LOVD 3.X 2018-11-24
OARD1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OARD1
Admin
BRAINN
- - LOVD 3.X 2018-10-08
OARD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OARD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAS1[gene]

- - Other 2014-03-07
OAS1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
OAS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-03-24
OAS1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAS1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OAS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAS1
Admin
BRAINN
- - LOVD 3.X 2018-10-05
OAS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAS1
Admin
BRAINN
- - LOVD 3.X 2018-10-02
OAS2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAS2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAS2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAS2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAS2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OAS2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAS2
Admin
BRAINN
- - LOVD 3.X 2018-10-11
OAS2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OAS2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
OAS2 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/OAS2
Ankita
CSIR-IGIB
- - LOVD 3.X 2015-09-03
OAS3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAS3[gene]

- - Other 2014-03-07
OAS3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAS3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAS3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAS3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAS3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAS3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OAS3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OAS3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
OAS3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAS3
Admin
BRAINN
- - LOVD 3.X 2018-10-11
OAS3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAS3
Admin
BRAINN
- - LOVD 3.X 2018-12-05
OASL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OASL[gene]

- - Other 2014-03-07
OASL PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
OASL BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OASL
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OASL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OASL
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OASL LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OASL
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OASL BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OASL
Admin
BRAINN
- - LOVD 3.X 2018-11-16
OASL BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OASL
Admin
BRAINN
- - LOVD 3.X 2018-10-14
OAT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAT[gene]

- - Other 2014-04-03
OAT BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAT
Admin
BRAINN
- - LOVD 3.X 2018-11-12
OAT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-03-30
OAT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OAT BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAT
Admin
BRAINN
- - LOVD 3.X 2018-10-11
OAZ1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAZ1[gene]

- - Other 2014-03-07
OAZ1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAZ1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAZ1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OAZ1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
OAZ1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAZ1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
OAZ2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAZ2[gene]

- - Other 2014-03-07
OAZ2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAZ2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAZ2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAZ2
Admin
BRAINN
- - LOVD 3.X 2018-10-03
OAZ2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAZ2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAZ2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAZ2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
OAZ3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OAZ3[gene]

- - Other 2014-03-07
OAZ3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OAZ3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OAZ3 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OAZ3
Admin
BRAINN
- - LOVD 3.X 2018-10-20
OAZ3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OAZ3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
OAZ3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OAZ3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OAZ3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OAZ3
Admin
BRAINN
- - LOVD 3.X 2018-09-30
OAZ3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OAZ3
Admin
BRAINN
- - LOVD 3.X 2018-10-03
OBFC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OBFC1[gene]

- - Other 2014-03-07
OBFC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OBFC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-10-22
OBFC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OBFC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OBP2A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OBP2A[gene]

- - Other 2014-09-01
OBP2A BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OBP2A
Admin
BRAINN
- - LOVD 3.X 2018-12-08
OBP2A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OBP2A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OBP2A LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OBP2A
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OBP2B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OBP2B[gene]

- - Other 2014-09-01
OBP2B BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OBP2B
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OBP2B BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OBP2B
Admin
BRAINN
- - LOVD 3.X 2018-12-08
OBP2B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OBP2B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OBP2B LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OBP2B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
OBP2B BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OBP2B
Admin
BRAINN
- - LOVD 3.X 2018-11-19
OBSCN ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OBSCN[gene]

- - Other 2014-03-07
OBSCN MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/OBSCN
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X Unknown
OBSCN BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OBSCN
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OBSCN Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OBSCN
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
OBSCN BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OBSCN
Admin
BRAINN
- - LOVD 3.X 2018-10-21
OBSCN LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OBSCN
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
OBSCN Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OBSCN
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
OBSCN BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OBSCN
Admin
BRAINN
- - LOVD 3.X 2018-10-01
OBSCN BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OBSCN
Admin
BRAINN
- - LOVD 3.X 2018-10-04
OBSL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OBSL1[gene]

- - Other 2014-03-07
OBSL1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OBSL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
OBSL1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OBSL1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
OBSL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OBSL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
OBSL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/OBSL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
OBSL1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/OBSL1
Admin
BRAINN
- - LOVD 3.X 2018-11-15
OBSL1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OBSL1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
OBSL1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OBSL1
Admin
BRAINN
- - LOVD 3.X 2018-12-03
OC90 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/OC90
Admin
BRAINN
- - LOVD 3.X 2018-10-19
OC90 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/OC90
Admin
BRAINN
- - LOVD 3.X 2018-10-10
OC90 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OC90[gene]

- - Other 2014-03-07
OC90 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/OC90
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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