Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

  Please select the first letter of the Gene:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

 Supported by:
Genome Scan, Next Generation Sequencing Services
Information Currently active filter: genes starting with E. Remove filter

3772 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 2018-10-11
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 2019-01-15
E2F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F1[gene]
- - Other 2019-03-05
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 2018-10-18
E2F2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F2[gene]
- - Other 2019-03-05
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 2018-10-03
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 2018-10-15
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]
- - Other 2019-03-05
E2F3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F3		 Admin
BRAINN		 - - LOVD 3.X 2018-11-23
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]
- - Other 2019-03-05
E2F4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F4		 Admin
BRAINN		 - - LOVD 3.X 2019-01-02
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 2018-11-27
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]
- - Other 2019-03-05
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 2018-10-19
E2F5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/E2F5		 Admin
BRAINN		 - - LOVD 3.X 2018-12-06
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 2018-11-09
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]
- - Other 2019-03-05
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 2018-11-29
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 2018-12-17
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]
- - Other 2019-03-05
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 2018-10-05
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 2018-12-12
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]
- - Other 2019-03-05
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 2018-10-04
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 2018-12-30
E4F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E4F1[gene]
- - Other 2019-03-05
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 2018-11-18
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]
- - Other 2019-03-05
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 2018-11-15
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]
- - Other 2019-03-05
EAF2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EAF2		 Admin
BRAINN		 - - LOVD 3.X 2018-11-16
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 2018-10-12
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 2018-12-04
EAPP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EAPP		 Admin
BRAINN		 - - LOVD 3.X 2018-12-20
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]
- - Other 2019-03-05
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 2018-12-07
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]
- - Other 2019-03-05
EARS2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-01-02
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 2015-04-02
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]
- - Other 2019-03-05
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 2018-10-19
EBAG9 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/EBAG9		 Admin
BRAINN		 - - LOVD 3.X 2018-12-07
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 2018-11-23
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 2018-10-15
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