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.

ALFA Project Release 2 with over 900M variants from 192K subjects is now available (January 6, 2021)

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. Please provide your feedback by completing this short 3 min survey.

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)
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