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Understanding gene raw gene data - from rs numbers to genes (CYP2C19)

Discussion in 'Laboratory and Genetic Testing' started by daftasabrush, Mar 29, 2021.

  1. daftasabrush

    daftasabrush Senior Member (Voting Rights)

    Messages:
    157
    Apparently most of the population have variants or absence of the CYP2C19 gene.

    But how do I figure out from the raw genetic data (rs17878459 etc numbers, and alleles) which variants I do or don't have?

    I'm working from SNPedia but usually it's just a case of checking the rs number, and looking for what the alleles are (like A , T or G, G). But this one has me confused - I can find several rs numbers that are relevant in my dates, all are homogeneous (same letters on the pair).
    Does this mean I do or don't have those variants? If the variant is not there eg for CYP2C19*3 does that count as an abnormality for this particular gene?

    I am not sure what data would indicate
    "normal".
     
  2. strategist

    strategist Senior Member (Voting Rights)

    Messages:
    3,977
    The rs identification codes refer to variants only. A variant is something that only a minority of people have.
     
    Amw66 and alktipping like this.
  3. daftasabrush

    daftasabrush Senior Member (Voting Rights)

    Messages:
    157
    Thanks, a bit of a fail on my part - I needed to see the pages for each variant eg rs12248560 page separately to see which are nonfunctional or problematic.
     

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