Table 1 Some of the main data repositories of genetic variation associated with human phenotypes and disease

dbSNP

General catalog of polymorphisms

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

[142]

Ensembl

Maps known mutations and SNPs in the human genome from other databases

http://www.ensembl.org

[143]

OMIM

Online Mendelian Inheritance in Man; a large collection of disease annotations, often for monogenetic diseases

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

[144]

COSMIC

Catalog of somatic mutations in cancer

http://www.sanger.ac.uk/genetics/CGP/cosmic/

[145]

CGC

Cancer Gene Census

http://www.sanger.ac.uk/genetics/CGP/Census/

[146]