Pathogenic Or Not

Central variation databases (CMDBs) collect variants in all genes, mainly from the literature.

Human Gene Mutation Database (HGMD) (Stenson, et al., 2008) http://www.hgmd.cf.ac.uk/ac/index.php

Online Mendelian Inheritance in Man (OMIM) (Hamosh, et al., 2005)
http://www.ncbi.nlm.nih.gov/omim/

UniProtKB/Swissprot (Boutet, et al., 2007)
http://ca.expasy.org/sprot/

Locus-specific databases (LSDBs) list variants in specific genes and are typically manually annotated. The Human Genome Variation Society maintains a list of available LSDBs and CMDBs on their website (http://www.hgvs.org/dblist/dblist.html). Another list is available from GEN2PHEN project http://www.gen2phen.org/data/lsdbs/

Genome browsers can also be used to obtain information about genes, their products and sequence variants.

University of California, Santa Cruz (UCSC) Genome Browser (Kent, et al., 2002)
http://genome.ucsc.edu/

National Center for Biotechnology Information (NCBI) Map Viewer (Wheeler, et al., 2003)
http://www.ncbi.nlm.nih.gov/mapview/

Ensembl Genome Browser (Stalker, et al., 2004)
http://www.ensembl.org/index.html

Other mutation databases

MutDB (Dantzer, et al., 2005): human variation data annotated with protein structural and functional information.
http://www.mutdb.org/

SAAPdb (Cavallo and Martin, 2005): SNPs with phenotype and protein structural information.
http://www.bioinf.org.uk/saap/db/

Variation databases