How to Look Up Your Own Variants in NCBI dbSNP
A working guide to rsIDs: what they mean, how to annotate your own VCF against dbSNP, and how to handle merges and withdrawn records.
Tag: dbsnp
3 posts
How to Check a Single SNP in Your Own Genome Data
A practical workflow for going from an rsID to a genotype you can trust. Covers resolving coordinates, querying your VCF and checking the reads.
How to Look Up an rsID in Your Own DNA Data
A practical guide to resolving rsIDs against your own genotypes: normalizing a VCF, querying dbSNP and Ensembl, annotating with consequence, frequency, and ClinVar, and reading the result without over-interpreting it.