dbSNP

dbSNP contains human single nucleotide variations, microsatellites, and small-scale insertions and deletions along with publication, population frequency, molecular consequence, and genomic and RefSeq mapping information for both common variations and clinical mutations.
October 24, 2019
ASHG dbSNP and dbGaP Allele Frequency Aggregator (ALFA) project collab, presentation, and handout are now online. Subscribe to get announcement for the webinar on December 4, 2019.
April 8, 2019
dbSNP Entrez updates have been completed. Please subscribe to dbSNP to get all the latest updates.

Search Examples. Additional search terms are here.

All of dbSNP (then use filters on results page) all[sb]
dbSNP RefSNP ID Single: 328; Multiple 328,226,200
Gene Gene symbol PTEN[Gene Name] or gene ID (Locus) 4023[Locus ID]
Genomic location of a single position or range 6[Chromosome] AND (1500000:3000000[Base Position] )
Clinical significance "pathogenic"[Clinical Significance]) OR "likely pathogenic"[Clinical Significance]
Global or study-wide minor allele frequency (GMAF) of a single frequency or range
(Note the required zero padding frequency as shown in example for 0.001 and 0.01)
00000.0010:00000.0100[GLOBAL_MAF]
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