What Are SNPs - A Simple Guide

A friendly explanation of SNPs, the tiny DNA differences that many consumer tests report, and how they relate to traits.

SNPs are single nucleotide polymorphisms - single letter differences that vary among people. Consumer DNA tests report thousands of them.

Why SNPs matter

  • They are common and easy to measure
  • Some are associated with traits in research
  • They provide a compact summary of genetic variation

A basic SNP record

Most raw files list rsid, chromosome, position, and your genotype. Example:

rs123456	1	123456	AG

SNPs and traits

Traits are influenced by many SNPs and by environment. A single SNP rarely tells the whole story. Treat trait indicators as probabilities, not certainties.

For a private way to explore your SNPs and traits, read on device DNA analysis and our browser based walkthrough.

Common terms in plain language

  • rsid - a stable identifier for a variant in public databases
  • allele - a version of a genetic letter at a position, like A or G
  • genotype - your pair of letters at a position, like AG
  • minor allele frequency - how common an allele is in a population

How to look up a SNP in your file

rg "^rs429358" my_raw_dna.txt   # or: grep '^rs429358' my_raw_dna.txt

If a line appears, you will see the chromosome, position, and your genotype. If nothing appears, that SNP is not included in your file.

A note on context

Many traits depend on groups of variants working together and on non genetic factors. Treat any single result as a small piece of a larger picture.

This guide is educational only.

Further reading