dbSNP - sporedata/researchdesigneR GitHub Wiki

General description

The Single Nucleotide Polymorphism Database (dbSNP) contains human single-base nucleotide variations (SNVs), microsatellites repeats, small multi-base deletions and insertions, population frequency, publication, molecular consequence, and genomic and RefSeq mapping information for clinical mutations and common variations.

In addition to single nucleotide alterations common enough in a population to be referred to as polymorphic, dbSNP also includes rare variants, such as those with clinical assertions in ClinVar. Allele frequency from the NCBI ALFA project (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/), which compiles data from dbGaP studies, is also included in dbSNP.

Data access

More information about dbSNP can be found at https://www.ncbi.nlm.nih.gov/snp/