Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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11609 entries on 117 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
P2RX1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX1[gene]
- - ClinVar 2019-10-01
P2RX1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
P2RX1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
P2RX2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX2[gene]
- - ClinVar 2019-10-01
P2RX2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RX2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
P2RX2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
P2RX2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
P2RX3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX3[gene]
- - ClinVar 2019-10-01
P2RX3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
P2RX4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX4[gene]
- - ClinVar 2019-03-05
P2RX4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
P2RX4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-02
P2RX5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX5[gene]
- - ClinVar 2019-10-01
P2RX5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX5 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RX5		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
P2RX5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
P2RX5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX5-TAX1BP3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX5-TAX1BP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX5-TAX1BP3 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RX5-TAX1BP3		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
P2RX5-TAX1BP3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX5-TAX1BP3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
P2RX5-TAX1BP3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX5-TAX1BP3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX5-TAX1BP3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX5-TAX1BP3[gene]
- - ClinVar 2019-02-25
P2RX5-TAX1BP3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX5-TAX1BP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX5-TAX1BP3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX5-TAX1BP3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX6[gene]
- - ClinVar 2019-10-01
P2RX6 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RX6		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
P2RX6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX6 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX6		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX6 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX6		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX6 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX6		 Admin
BRAINN		 - - LOVD 3.X 2018-10-19
P2RX6 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX6		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-10
P2RX6P Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX6P		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RX7[gene]
- - ClinVar 2019-03-05
P2RX7 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RX7		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
P2RX7 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RX7		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RX7 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RX7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX7 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RX7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RX7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RX7		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RX7 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RX7		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
P2RX7 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RX7		 Admin
BRAINN		 - - LOVD 3.X 2018-10-02
P2RY1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY1[gene]
- - ClinVar 2019-03-05
P2RY1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
P2RY1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RY1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
P2RY1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RY1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RY1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RY1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RY1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
P2RY1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RY1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
P2RY1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RY1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY10 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RY10		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
P2RY10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY10[gene]
- - ClinVar 2019-10-01
P2RY10 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY10 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RY10		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
P2RY10 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RY10		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RY10 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY10		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
P2RY10 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RY10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY11 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RY11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY11[gene]
- - ClinVar 2019-03-05
P2RY11 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY11		 Admin
BRAINN		 - - LOVD 3.X 2018-11-14
P2RY11 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY11 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RY11		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RY11 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RY11		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RY11 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RY11		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
P2RY11 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RY11		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
P2RY12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY12[gene]
- - ClinVar 2019-11-05
P2RY12 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY12		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
P2RY12 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
P2RY12 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RY12		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
P2RY12 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY12 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RY12		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RY12 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RY12		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RY12 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RY12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY13[gene]
- - ClinVar 2019-10-01
P2RY13 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY13		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
P2RY13 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/P2RY13		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
P2RY13 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY13		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY13 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/P2RY13		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
P2RY13 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/P2RY13		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
P2RY13 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/P2RY13		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
P2RY14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=P2RY14[gene]
- - ClinVar 2019-10-01
P2RY14 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/P2RY14		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
P2RY14 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/P2RY14		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
P2RY14 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/P2RY14		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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