Table 1.

Variation databases

Database	Description	Link	Reference
COSMIC	Cancer-associated mutations	http://cancer.sanger.ac.uk/cosmic	[6]
ClinVar	Clinical significance of variation	http://www.ncbi.nlm.nih.gov/clinvar/	[7]
dbGaP	Database of genotypes and phenotypes	http://www.ncbi.nlm.nih.gov/gap/	[8]
dbNSFP	Functional predictions and annotations of non-synonymous SNPs	https://sites.google.com/site/jpopgen/dbNSFP	[9–11]
dbSNP	Short variation	http://www.ncbi.nlm.nih.gov/projects/SNP/	[5]
dbVAR	Structural variation	http://www.ncbi.nlm.nih.gov/dbvar/	[12]
DGVa	Structural variation	http://www.ebi.ac.uk/dgva	[12]
EGA	Private variation archive	https://www.ebi.ac.uk/ega/home	[13]
EVA	Public variation archive	http://www.ebi.ac.uk/eva/	n/a
Ensembl	Comprehensive biological database including variation	http://www.ensembl.org/	[14]
HGMD	Disease related gene lesions	http://www.hgmd.cf.ac.uk/	[15]
HGVD	Japanese genetic variation	http://www.genome.med.kyoto-u.ac.jp/SnpDB/	[16]
HUMA	Comprehensive biological database including variation	https://huma.rubi.ru.ac.za	n/a
LS-SNP/PDB	Non-synonymous SNPs likely to affect biological function	http://ls-snp.icm.jhu.edu/ls-snp-pdb/	[17]
NHGRI-EBI Catalog	Manually-curated database of published genome-wide association studies	http://www.ebi.ac.uk/gwas/home	[18]
OMIM	Human genes and genetic disorders	http://www.omim.org/	[19]
PinSnps	Protein-protein interaction networks	http://fraternalilab.kcl.ac.uk/PinSnps/	[20]
SNPeffect	Characterization and annotation of SNPs	http://snpeffect.switchlab.org/	[21]
SNPs3D	Functional effects of non-synonymous SNPs	http://www.snps3d.org/	[22]
TCGA	Cancer-associated mutations	http://cancergenome.nih.gov/	[23]
Uniprot	Protein database including non-synonymous SNPs	http://www.uniprot.org/	[24]
VnD	Variation and drugs	http://vnd.kobic.re.kr/	[25]