dbSNP

Foundational archive for single nucleotide polymorphisms and multiple small-scale variations.

Key Info

• URL: https://www.ncbi.nlm.nih.gov/snp/
• Category: Population
• API: Yes
• Free: Free
• ACMG Relevance: BA1, BS1, PM2

Why It Matters

The critical backbone for rsID variant identification, linking global population frequency studies back to the NCBI framework.

How to Use

See https://www.ncbi.nlm.nih.gov/snp/ for documentation and access.

STRC Research Usage

PARTIAL — API returned reference mismatch error for E1659A. May need different query format. rsID not yet assigned to this variant.

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]