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Table 2 The list of data sources for MyVariant.info. Column 1 lists the names of all 14 data sources included in MyVariant.info. Column 2 lists the version of each data source. Column 3 shows the number of variants from each data source included in MyVariant.info. Column 4 lists the URL for each data source

From: High-performance web services for querying gene and variant annotation

Source Version No. of variants URL Reference
dbNSFP v3.0c 82,030,830 https://sites.google.com/site/jpopgen/dbNSFP [46]
dbSNP v144 145,132,257 http://www.ncbi.nlm.nih.gov/snp/ [18]
ClinVar 2015-09 114,627 http://www.ncbi.nlm.nih.gov/clinvar/ [25]
EVS v2 1,977,300 http://evs.gs.washington.edu/EVS/ [47]
CADD v1.2 163,690,986 http://cadd.gs.washington.edu/ [23]
MutDB - 420,221 http://www.mutdb.org/ [48]
GWAS Catalog From UCSC 15,243 http://www.ebi.ac.uk/gwas/ [49]
COSMIC v68 from UCSC 1,024,498 http://cancer.sanger.ac.uk/cosmic/ [50]
DOCM - 1119 http://docm.genome.wustl.edu/ [51]
SNPedia - 5907 http://www.snpedia.com/index.php/SNPedia [52]
EMVClass - 12,066 http://geneticslab.emory.edu/emvclass/emvclass.php [53]
Wellderly - 21,240,519 http://www.stsiweb.org/wellderly/ [54]
ExAC v0.3 10,195,872 http://exac.broadinstitute.org/ [22]
GRASP v2.0.0.0 2,212,148 http://grasp.nhlbi.nih.gov/Overview.aspx [55]