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
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5741 entries on 58 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
F10 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F10		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F10 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F10		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
F10 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/F10		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
F10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F10[gene]
- - ClinVar 2020-01-06
F10 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F10		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
F10 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F10 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F10		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X Unknown
F10 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F10-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F10-AS1[gene]
- - ClinVar 2020-01-06
F11 F XI Deficiency Mutation Database
http://www.factorxi.org/		 Saunders RE, Shiltagh N, Gomez K, Mellars G, Cooper C, Perry DJ, Tuddenham EG, Perkins SJ. Thromb Haemost
United Kingdom		 - - Other 0000-00-00
F11 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F11 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F11		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F11 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F11		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
F11 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F11		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
F11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F11[gene]
- - ClinVar 2020-01-06
F11 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F11 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F11		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X 2019-07-17
F11 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F11-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F11-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F11-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F11-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F11-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F11-AS1[gene]
- - ClinVar 2020-01-06
F11R BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F11R		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F11R ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F11R[gene]
- - ClinVar 2020-01-06
F11R BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F11R		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F11R BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F11R		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F11R Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F11R		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
F11R LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F11R		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
F12 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F12 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F12		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F12 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F12		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-15
F12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F12[gene]
- - ClinVar 2020-01-06
F12 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F12 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F12		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-06-21
F12 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F13A1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F13A1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
F13A1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F13A1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F13A1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F13A1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F13A1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F13A1[gene]
- - ClinVar 2020-01-06
F13A1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F13A1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
F13A1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F13A1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F13A1		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X 2019-07-24
F13A1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F13A1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F13B BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F13B		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
F13B BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F13B		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F13B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F13B[gene]
- - ClinVar 2020-01-06
F13B BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F13B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F13B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F13B		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X 2019-07-17
F13B BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F13B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F13B LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F13B		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
F2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
F2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
F2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/F2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
F2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F2[gene]
- - ClinVar 2020-01-06
F2 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F2		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X 2018-07-11
F2R BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F2R		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
F2R BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F2R		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2R BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F2R		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2R BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F2R		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F2R ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F2R[gene]
- - ClinVar 2020-01-06
F2R Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F2R		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-07-11
F2RL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F2RL1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
F2RL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F2RL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2RL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F2RL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2RL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F2RL1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F2RL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F2RL1[gene]
- - ClinVar 2020-01-06
F2RL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F2RL1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
F2RL1 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/F2RL1		 Ankita
CSIR-IGIB		 - - LOVD 3.X 2015-09-03
F2RL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F2RL1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
F2RL2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F2RL2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
F2RL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F2RL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2RL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F2RL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2RL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F2RL2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F2RL2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/F2RL2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
F2RL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F2RL2[gene]
- - ClinVar 2019-10-01
F2RL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F2RL2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
F2RL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F2RL2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
F2RL3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F2RL3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F2RL3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F2RL3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
F2RL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F2RL3[gene]
- - ClinVar 2020-01-06
F3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F3		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
F3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F3[gene]
- - ClinVar 2020-01-06
F3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F3 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-07-11
F3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
F5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/F5		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
F5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/F5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
F5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/F5		 Daniel J Hampshire
University of Hull		 - - LOVD 3.X 2019-07-12
F5 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/F5		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
F5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=F5[gene]
- - ClinVar 2020-01-06
F5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/F5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F5 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
F5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/F5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
F5 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F5		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
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