This may be explained by phenotypic expression, which differs from genotype. Perhaps that patient has an excellent diet and lifestyle that minimizes the effects of the SNP. Many mutations also have low penetrance, meaning few individuals carrying that SNP actually exhibit consequences of the SNP. It could also depend on age or other factors: a younger person may not have had time for the sequelae to develop into measurable outcomes yet. You can read more here: https://ghr.nlm.nih.gov/primer/inheritance/penetranceexpressivity .
Articles in this section
- Why Doesn’t StrateGene Report on APOE SNPs?
- My notable variation for a haplotype says "indeterminate" - what does this mean?
- How come the StrateGene SNP list is so different from what I am reading elsewhere online?
- How accurate are the COMT Haplotype speeds?
- How important is MAT1A in the SAM/methionine story?
- My COMT speed (specifically V158M/RS4680) was different in a previous StrateGene report than what is being reported here in my new StrateGene. Why is this?
- What does “increased risk” mean?
- How can I find more information about a particular SNP?
- I see results reported as NA, NC, or "indeterminate". What does this mean?
- What is meant by "tag SNP"?