dbSNP

If dbSNP is a database containing Single Nucleotide Polymorphisms (SNP), it doesn’t accept mutations, right?

Think of dbSNP as a "dbVariation" since it contains not only Single Nucleotide Polymorphism (SNP), but also indels, STRs, MNPs, etc. Biologists have also been using the term “Polymorphism” to refer to common variations and the term "mutation" to refer to rare allele variation. dbSNP includes both polymorphisms and mutations. Please note, however, that the use of the word “mutation” is being phased out in dbSNP, and will be replaced by the term “Clinical/LSDB variation”.

Starting in the Spring of 2008, dbSNP began accepting submissions of human Clinical/LSDB variations as well as annotations to existing human variations (including phenotype) on the Human Variation: Search, Annotate, Submit site (for single submissions) as well as on the Human Variation: Annotate and Submit Batch Data site (for multiple submissions). As of this date, there are a total of 1266 records in dbSNP that were submitted as Clinical/LSDB variations (select “Clinical/LSDB variation” in the Entrez SNP limits page and click “GO” with out entering a search term in the Entrez search box), and 1134 records submitted as Clinical/LSDB variations that also have OMIM links (select “Clinical/LSDB variation” and “OMIM” in the Entrez SNP limits page and click “GO” with out entering a search term in the Entrez search box).

Those SNPs with clinical association(s) will have a red “VarView” (Variation Viewer) link in the “allele” section at the upper right of the refSNP cluster report. Clicking the link will take you to the Variation Viewer Report for the gene in which the SNP is found.

http://www.ncbi.nlm.nih.gov/books/NBK44424/

dbSNP BATCH QUERY http://www.ncbi.nlm.nih.gov/projects/SNP/batchquery.html

http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?locusId=249

ALL: http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?chooseRs=all&locusId=249

Clinical Association: http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28937569