dbSNP

Identifier

dbsnp

License

Public domain

Citation

Phan L, Zhang H, Wang Q, Villamarin R, Hefferon T, Ramanathan A, Kattman B. The evolution
of dbSNP: 25 years of impact in genomic research. Nucleic Acids Res 2025;53(D1):D925-D931. doi:10.1093/nar/gkae977

Overview

dbSNP is NCBI’s reference database of small genetic variants.

This namespace contains the latest dbSNP build, retaining a separate row for each rsID and alternate allele with its associated gene overlap, population frequency, and ClinVar annotations.

variants supports lookup by rsid, genomic coordinate, or alleles.

Multiple rsIDs may have identical chromosome, position, reference allele, and alternate allele in the same build; their records remain separate and do not represent historical dbSNP merges. genes contains overlapping NCBI Gene records, frequencies contains study-specific allele frequencies, and the clinvar_* tables contain reported clinical assertions and conditions.

Tables

• dbsnp.clinvar_accessions — ClinVar accessions and classifications associated with dbSNP variants.
• dbsnp.clinvar_disease_xrefs — External condition identifiers associated with ClinVar records.
• dbsnp.clinvar_diseases — Condition names associated with ClinVar records.

not_provided and not_specified are source placeholders, not condition names.

• dbsnp.clinvar_variant_xrefs — External variant identifiers associated with ClinVar records.
• dbsnp.frequencies — Alternate allele frequencies reported by population genetics studies, from the dbSNP FREQ annotation.
• dbsnp.genes — Genes overlapping each dbSNP variant, from the dbSNP GENEINFO and PSEUDOGENEINFO annotations.
• dbsnp.variants — dbSNP variants and their annotations.