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 S. Remove filter

14888 entries on 149 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
S100A1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2018-12-27
S100A1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-29
S100A1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A1[gene]
- - Other 2019-03-05
S100A1 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/S100A1		 Ankita
CSIR-IGIB		 - - LOVD 3.X 2015-09-03
S100A10 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A10 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A10 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A10 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A10 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A10		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A10[gene]
- - Other 2019-03-05
S100A10 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/S100A10		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-13
S100A11 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A11 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A11 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A11 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A11 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A11		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A11[gene]
- - Other 2019-03-05
S100A12 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A12 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A12 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A12 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A12 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A12		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A12[gene]
- - Other 2019-03-05
S100A13 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2018-12-27
S100A13 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A13 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2018-11-29
S100A13 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A13 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A13		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A13 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A13		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A13[gene]
- - Other 2019-03-05
S100A14 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A14		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A14 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A14		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A14 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A14		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A14[gene]
- - Other 2019-03-05
S100A16 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A16		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A16 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A16		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A16 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A16[gene]
- - Other 2019-03-05
S100A2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
S100A2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A2[gene]
- - Other 2019-03-05
S100A3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A3[gene]
- - Other 2019-03-05
S100A4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-03
S100A4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A4[gene]
- - Other 2019-03-05
S100A5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A5[gene]
- - Other 2019-03-05
S100A6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A6		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A6		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A6[gene]
- - Other 2019-03-05
S100A7 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A7 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/S100A7		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
S100A7 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
S100A7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A7[gene]
- - Other 2019-03-05
S100A7 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2018-12-07
S100A7A BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A7A BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A7A BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A7A BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A7A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7A		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A7A[gene]
- - Other 2019-03-05
S100A7L2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7L2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A7L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7L2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7L2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A7L2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A8 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A8 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A8 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A8 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
S100A8 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A8		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A8 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A8		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A8[gene]
- - Other 2019-03-05
S100A9 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A9		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
S100A9 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A9		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A9 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A9[gene]
- - Other 2019-03-05
S100B BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
S100B LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100B		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
S100B BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
S100B BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100B		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100B BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2019-01-16
S100B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100B[gene]
- - Other 2019-03-05
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