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. 2018 Nov 1;103(5):637–653. doi: 10.1016/j.ajhg.2018.10.001

Table 2.

Toolbox for Identifying and Annotating Candidate GWAS Variants

Purpose Toola URL or Reference
Identification of LD proxies LDlink https://ldlink.nci.nih.gov/
Statistical fine-mapping BIMBAM http://stephenslab.uchicago.edu/software.html
MANTRA Morris51
CAVIARBF https://bitbucket.org/Wenan/caviarbf
CAVIAR http://genetics.cs.ucla.edu/caviar/
PAINTOR https://github.com/gkichaev/PAINTOR_V3.0
fGWAS https://github.com/joepickrell/fgwas
PICS https://pubs.broadinstitute.org/pubs/finemapping/pics.php
funciSNP https://doi.org/doi:10.18129/B9.bioc.FunciSNP
FINEMAP http://www.christianbenner.com/
GenoWAP http://genocanyon.med.yale.edu/GenoWAP
DAP https://github.com/xqwen/dap
Annotation of splice variants HEXplorer http://www2.hhu.de/rna/html/hexplorer_score.php
ASSA http://splice.uwo.ca/
MaxEntScan http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html
GeneSplicer http://ccb.jhu.edu/software/genesplicer/
Human Splicing Finder http://www.umd.be/HSF3/
Annotation of coding variants PolyPhen2 http://genetics.bwh.harvard.edu/pph2/
SIFT http://provean.jcvi.org/index.php
CONDEL http://bbglab.irbbarcelona.org/fannsdb/
MAPPIN https://doi.org/10.6084/m9.figshare.4639789
dbNSFP https://sites.google.com/site/jpopgen/dbNSFP
MutationTaster2 http://www.mutationtaster.org/
Annotation of noncoding and coding variants CADD https://cadd.gs.washington.edu/
PredictSNP2 https://loschmidt.chemi.muni.cz/predictsnp2/
FATHMM-MKL http://fathmm.biocompute.org.uk/
EIGEN http://www.columbia.edu/∼ii2135/eigen.html
Annotation of noncoding variants GWAVA https://www.sanger.ac.uk/sanger/StatGen_Gwava
ARVIN https://github.com/gaolong/arvin
SNVrap http://jjwanglab.org/snvrap
DANN https://cbcl.ics.uci.edu/public_data/DANN/
DanQ https://github.com/uci-cbcl/DanQ
SNPDelScore https://www.ncbi.nlm.nih.gov/research/snpdelscore
deltaSVM http://www.beerlab.org/deltasvm/
DeepSEA http://deepsea.princeton.edu/job/analysis/create/
3DSNP http://cbportal.org/3dsnp/
HaploReg http://pubs.broadinstitute.org/mammals/haploreg/haploreg.php
SNiPA http://snipa.helmholtz-muenchen.de/snipa3/
GREGOR https://genome.sph.umich.edu/wiki/GREGOR
GARFIELD https://www.ebi.ac.uk/birney-srv/GARFIELD/
RegulomeDB http://www.regulomedb.org/
Regulatory datasets ENCODE https://www.encodeproject.org/
Roadmap Epigenomics http://www.roadmapepigenomics.org/
Fantom5 http://fantom.gsc.riken.jp/5/
VISTA enhancer https://enhancer.lbl.gov/
cistromeDB http://cistrome.org/db/#/
Blueprint http://www.blueprint-epigenome.eu/
Databases of transcription factor binding motifs JASPAR http://jaspar.genereg.net/
HOCOMOCO http://hocomoco11.autosome.ru/
PWMtools https://ccg.vital-it.ch/pwmtools/
a

These example tools are intended as a starting point for researchers to identify available tools.