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dbSNP

Database of short genetic variations

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.

Important: When using dbSNP, please cite the resource using the following publication: The evolution of dbSNP: 25 years of impact in genomic research.

ALFA Project Release 4 with over 900M variants from 400K subjects is now available (May 15, 2025)

The goal is to provide allele frequency from more than 1 million dbGaP subjects with regular updates. Visit the project page for more information or view the introduction video below.


How to Search dbSNP. 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 4023[Gene_ID]
Genomic location of a single position or range on GRCh38. See the announcement and the guide for using GRCh37 coordinates 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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