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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3783 entries on 38 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
E2F1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F1[gene]
- - ClinVar 2020-01-06
E2F1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
E2F1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
E2F1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/E2F2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
E2F2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F2[gene]
- - ClinVar 2020-01-06
E2F2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
E2F2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F2		 Admin
BRAINN		 - - LOVD 3.X 2018-09-27
E2F2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
E2F3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F3[gene]
- - ClinVar 2020-01-06
E2F3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-03
E2F4 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/E2F4		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
E2F4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
E2F4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F4[gene]
- - ClinVar 2019-05-03
E2F4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F5 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F5		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
E2F5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F5[gene]
- - ClinVar 2019-10-01
E2F5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-10
E2F6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F6 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F6		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F6 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F6		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
E2F6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F6[gene]
- - ClinVar 2019-10-01
E2F6 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F6		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F7 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F7		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
E2F7 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F7		 Admin
BRAINN		 - - LOVD 3.X 2018-10-02
E2F7 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F7		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F7 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F7 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
E2F7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F7[gene]
- - ClinVar 2020-01-06
E2F7 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F7		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E2F8 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F8		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
E2F8 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/E2F8		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
E2F8 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F8 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/E2F8		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
E2F8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F8[gene]
- - ClinVar 2020-01-06
E2F8 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/E2F8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E2F8 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E2F8		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
E4F1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/E4F1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
E4F1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E4F1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
E4F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E4F1[gene]
- - ClinVar 2019-10-01
E4F1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/E4F1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
EAF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EAF1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
EAF1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EAF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAF1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EAF1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
EAF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAF1[gene]
- - ClinVar 2020-01-06
EAF1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/EAF1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
EAF1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EAF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EAF1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
EAF2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EAF2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
EAF2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EAF2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
EAF2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EAF2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
EAF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAF2[gene]
- - ClinVar 2020-01-06
EAF2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EAF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAF2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EAF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAF2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EAF2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
EAPP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EAPP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAPP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EAPP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EAPP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EAPP		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
EAPP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EAPP		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
EAPP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EAPP		 Admin
BRAINN		 - - LOVD 3.X 2018-10-26
EAPP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAPP[gene]
- - ClinVar 2019-10-01
EAPP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EAPP		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
EARS2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EARS2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EARS2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
EARS2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EARS2		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
EARS2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EARS2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
EARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EARS2[gene]
- - ClinVar 2020-01-06
EARS2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EARS2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/EARS2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
EARS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EARS2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-24
EBAG9 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBAG9		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
EBAG9 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/EBAG9		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
EBAG9 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBAG9[gene]
- - ClinVar 2020-01-06
EBAG9 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EBAG9		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EBAG9 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EBAG9		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EBAG9 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EBAG9		 Admin
BRAINN		 - - LOVD 3.X 2018-10-10
EBAG9 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/EBAG9		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
EBF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/EBF1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
EBF1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EBF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
EBF1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/EBF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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