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.

ALFA Project Inaugural Release March 10, 2020


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


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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