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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3202 entries on 33 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
F10 Iran Variation Database
http://genet.ir/variome/genes/F10
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
F10 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F10[gene]

- - Other 2014-03-07
F10 LOVD - Leiden Open Variation Database
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F10
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X Unknown
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 LOVD - Leiden Open Variation Database
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 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F11[gene]

- - Other 2014-03-07
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F11
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X Unknown
F11 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=F11
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
- - LOVD 2.X 2013-01-05
F11-AS1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F11-AS1[gene]

- - Other 2014-08-07
F11R ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F11R[gene]

- - Other 2014-03-07
F11R LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F11R
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
F11R LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F11R
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
F11R QUESTIONS / SUGGESTIONS: Send us an email!
http://bipmed.iqm.unicamp.br/genes/F11R
Admin
Unicamp
- - LOVD 3.X 2015-11-10
F12 LOVD - Leiden Open Variation Database
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
http://ncbi.nlm.nih.gov/clinvar/?term=F12[gene]

- - Other 2014-09-01
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F12
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-06-16
F13A1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F13A1[gene]

- - Other 2014-03-07
F13A1 LOVD - Leiden Open Variation Database
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F13A1
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X Unknown
F13B ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F13B[gene]

- - Other 2014-03-07
F13B LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F13B
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X Unknown
F13B LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F13B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
F13B Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=F13B
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
- - LOVD 2.X 2013-06-14
F13B QUESTIONS / SUGGESTIONS: Send us an email!
http://bipmed.iqm.unicamp.br/genes/F13B
Admin
Unicamp
- - LOVD 3.X 2015-11-10
F2 LOVD - Leiden Open Variation Database
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 Iran Variation Database
http://genet.ir/variome/genes/F2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
F2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F2[gene]

- - Other 2014-09-01
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F2
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X Unknown
F2R ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F2R[gene]

- - Other 2014-03-07
F2R LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F2R
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
F2RL1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F2RL1[gene]

- - Other 2014-03-07
F2RL1 LOVD - Leiden Open Variation Database
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F2RL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
F2RL2 Iran Variation Database
http://genet.ir/variome/genes/F2RL2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
F2RL2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F2RL2[gene]

- - Other 2014-06-02
F2RL2 LOVD - Leiden Open Variation Database
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F2RL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
F2RL3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F2RL3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
F2RL3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F2RL3[gene]

- - Other 2014-03-07
F3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F3[gene]

- - Other 2014-03-07
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
F3 LOVD - Leiden Open Variation Database
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F5
Daniel J Hampshire
University of Sheffield
- - LOVD 3.X 2015-10-24
F5 Iran Variation Database
http://genet.ir/variome/genes/F5
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
F5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F5[gene]

- - Other 2014-03-07
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 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
F5 QUESTIONS / SUGGESTIONS: Send us an email!
http://bipmed.iqm.unicamp.br/genes/F5
Admin
Unicamp
- - LOVD 3.X 2015-11-10
F7 EAHAD Coagulation Factor Variant Databases
http://grenada.lumc.nl/LOVD2/VWF/home.php?select_db=F7
Daniel J Hampshire & Pavithra Rallapalli & Geoffrey Kemball-Cook & John H McVey & Muriel Giansily-Blaizot
University of Sheffield, Sheffield, UK
Structural and Molecular Biology, University College London, London, UK
University College London, London, UK
University of Surrey
CHRU de Montpellier - Hôpital Saint-Eloi
- - LOVD 2.X 2015-03-04
F7 The UMD F7 mutations database
http://www.umd.be/F7/W_F7/index.html
Christophe Beroud, Muriel Giansily-Blaizot
Laboratoire de génétique Moléculaire et Chromosomique, Montpellier, France
- - UMD Unknown
F7 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F7
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
F7 Iran Variation Database
http://genet.ir/variome/genes/F7
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
F7 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F7[gene]

- - Other 2014-03-07
F7 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
F7 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F7
Daniel J Hampshire & Geoffrey Kemball-Cook
University of Sheffield
University College London
- - LOVD 3.X Unknown
F7 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=F7
LOVD-team, but with Curator vacancy & John McVey
Human & Clinical Genetics, LUMC, Leiden, NL
Thrombosis Research Institute
- - LOVD 2.X 2013-01-05
F8 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/F8
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
F8 LOVD - Leiden Open Variation Database
http://bioinf4.fcm.unicamp.br/LOVD/genes/F8
Cristiane Rocha
Unicamp
- - LOVD 3.X 2015-04-23
F8 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F8
Daniel J Hampshire & Geoffrey Kemball-Cook
University of Sheffield
University College London
- - LOVD 3.X 2016-01-23
F8 The Haemophilia A Mutation, Structure, Test & Resource Site (HAMSTeRS)
http://hadb.org.uk/
Dr Geoffrey Kemball-Cook
MRC Clinical Sciences Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
- - None (static pages) Unknown
F8 F8 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HA.htm
Francisco Vidal, PhD., Dr. Dominique Gallardo, PhD.
- - Other Unknown
F8 Iran Variation Database
http://genet.ir/variome/genes/F8
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
F8 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F8[gene]

- - Other 2014-09-01
F8 EAHAD Coagulation Factor Variant Databases
http://grenada.lumc.nl/LOVD2/VWF/home.php?select_db=F8
Daniel J Hampshire & Pavithra Rallapalli & Keith Gomez & Geoffrey Kemball-Cook
University of Sheffield, Sheffield, UK
Structural and Molecular Biology, University College London, London, UK
University College London, London, UK
- - LOVD 2.X 2012-10-26
F8A1 LOVD - Leiden Open Variation Database
http://bioinf4.fcm.unicamp.br/LOVD/genes/F8A1
Cristiane Rocha
Unicamp
- - LOVD 3.X 2015-04-23
F8A1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F8A1[gene]

- - Other 2014-09-01
F8A1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F8A1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-01-23
F8A2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F8A2[gene]

- - Other 2014-09-01
F8A2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F8A2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-01-23
F8A3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F8A3[gene]

- - Other 2014-09-01
F8A3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F8A3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-01-23
F9 LOVD - Leiden Open Variation Database
http://bioinf4.fcm.unicamp.br/LOVD/genes/F9
Cristiane Rocha
Unicamp
- - LOVD 3.X 2015-04-23
F9 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/F9
Daniel J Hampshire & Geoffrey Kemball-Cook
University of Sheffield
University College London
- - LOVD 3.X 2015-08-14
F9 F9 Mutation Registry at Hemobase
http://www.hemobase.com/en/Base_de_datos_HB.htm
Francisco Vidal, PhD., Dr. Dominique Gallardo, PhD.
- - Other Unknown
F9 Iran Variation Database
http://genet.ir/variome/genes/F9
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
F9 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=F9[gene]

- - Other 2014-09-01
F9 EAHAD Coagulation Factor Variant Databases
http://grenada.lumc.nl/LOVD2/VWF/home.php?select_db=F9
Daniel J Hampshire & Pavithra Rallapalli & Keith Gomez & Geoffrey Kemball-Cook & Stephen Perkins
University of Sheffield, Sheffield, UK
Structural and Molecular Biology, University College London, London, UK
University College London, London, UK
- - LOVD 2.X 2013-05-30
FA2H Melbourne Genomics Health Alliance Variant Database
http://mgha.endovl.org.au/genes/FA2H
John-Paul Plazzer
The Royal Melbourne Hospital
- - LOVD 3.X 2014-03-06
FA2H LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/FA2H
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
FA2H ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=FA2H[gene]

- - Other 2014-06-02
FA2H LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/FA2H
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-12-01
FAAH ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=FAAH[gene]

- - Other 2014-03-07
FAAH PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
FAAH LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/FAAH
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
FAAH LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/FAAH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
FAAH QUESTIONS / SUGGESTIONS: Send us an email!
http://bipmed.iqm.unicamp.br/genes/FAAH
Admin
Unicamp
- - LOVD 3.X 2015-11-10
FAAH2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/FAAH2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
FAAH2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/FAAH2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
FAAH2 LOVD - Leiden Open Variation Database
http://bioinf4.fcm.unicamp.br/LOVD/genes/FAAH2
Cristiane Rocha
Unicamp
- - LOVD 3.X 2015-04-13
FAAH2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=FAAH2[gene]

- - Other 2014-09-01
FAAH2 X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=FAAH2
LOVD-team, but with Curator vacancy
LUMC, Leiden, Nederland
- - LOVD 2.X 2015-10-24
FAAHP1 QUESTIONS / SUGGESTIONS: Send us an email!
http://bipmed.iqm.unicamp.br/genes/FAAHP1
Admin
Unicamp
- - LOVD 3.X 2015-11-10
FABP1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=FABP1[gene]

- - Other 2014-06-02
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