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Table 1 Examples of DNA variation databases

From: Systematics for types and effects of DNA variations

Database

URL

Reference

General variation databases

 Ensembl Variation Database

http://www.ensembl.org/info/genome/variation/index.html

[17]

ClinVar

http://www.ncbi.nlm.nih.gov/clinvar/

[18]

 Database of Short Genetic Variations (dbSNP)

http://www.ncbi.nlm.nih.gov/SNP/

[19]

Exome and complete genome sequences

 ExAC

http://exac.broadinstitute.org

[20]

 NHLBI Exome Sequencing Project (ESP) Exome Variant Server (EVS)

http://evs.gs.washington.edu/EVS/

[21]

 The 1000 Genomes Project

http://www.internationalgenome.org/

[22]

 European Nucleotide Archive (ENA)

https://www.ebi.ac.uk/ena

[23]

Locus specific variation databases

 Leiden Open Variation Databases (LOVD)

http://www.lovd.nl/3.0/home

[24]

 Universal Mutation Database (UMD)

http://www.umd.be/

[25]

 ImmunoDeficiency Variation Databases (IDbases)

http://structure.bmc.lu.se/idbase

[26]

 The TP53 web site

http://www.p53.fr/

[48]

Allele frequency databases

 The ALlele FREquency Database (ALFRED)

https://alfred.med.yale.edu/alfred/

[27]

 FINDbase

http://www.findbase.org/

[28]

 Allele Frequency Net Database (AFND)

http://www.allelefrequencies.net/

[29]

 Allele Frequency Community (AFC)

http://www.allelefrequencycommunity.org/

[30]

Cancer variation databases

 Catalogue of Somatic Mutations in Cancer (COSMIC)

http://cancer.sanger.ac.uk/cosmic

[31]

 The Cancer Genome Atlas (TCGA)

https://portal.gdc.cancer.gov/

[32]

 International Cancer Genome Consortium (ICGC)

https://dcc.icgc.org/

[33]

Ethnic/national databases

 Pakistan Genetic Mutation Database

http://www.pakmutation.com/

[34]

 The Singapore Human Mutation And Polymorphism Database

http://shmpd.bii.a-star.edu.sg/

[35]

Databases of genomic structural variations

 dbVar

https://www.ncbi.nlm.nih.gov/dbvar/content/human_hub/

[36]

 Database of Genomic Variants (DGV)

http://dgv.tcag.ca/dgv/

[37]

 Database of Genomic Variants archive (DGVa)

https://www.ebi.ac.uk/dgva

[38]

 Mitelman Database of Chromosome Aberrations in Cancer

http://cgap.nci.nih.gov/Chromosomes/Mitelman

 

 Human Polymorphic Inversion Database (InvFEST)

http://invfestdb.uab.cat/

[39]

Repeat databases

 The European database of L1-HS retrotransposon insertions in humans (euL1db)

http://eul1db.unice.fr/

[40]

 L1base, LINE-1 insertions

http://l1base.charite.de/l1base.php

[41]

 SINEbase

http://sines.eimb.ru/

[42]

 Short Tandem Repeat DNA Internet DataBase (STRBase)

https://strbase.nist.gov/

[43]

Methylation databases

 Methylation Bank (MethBank)

http://bigd.big.ac.cn/methbank

[49]

 NGSmethDB

http://bioinfo2.ugr.es:8888/NGSmethDB/

[44]

miRNA target databases

 Polymorphism in microRNAs and their TargetSites (PolymiRTS)

http://compbio.uthsc.edu/miRSNP/

[45]

 Somatic mutations altering microRNA-ceRNA interactions (SomamiR DB)

http://compbio.uthsc.edu/SomamiR/

[46]

DNA loop database

 R-loop DB

http://rloop.bii.a-star.edu.sg/

[47]