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What to make of a couple rare(?) SNPs associated with Neurodegeneration

Discussion in 'Genetic Testing and SNPs' started by Gene23, Aug 25, 2016.

  1. Gene23

    Gene23

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    I seem to have all 3 of these SNPs and I'm not sure what to make of it. I've got a lot of health issues, but I've been working on them, but I'd like to learn more about my genetics to guide in the process.

    There was a study a few years ago:

    PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China.



    A prominent researcher in the prion field has labeled S97N and F198V "suspected cause of disease" based on the paper above. Link here

    What disease, is not clear to me.

    I have S97N GG
    F198V TT
    R208C CC

    Looking for some insight, not afraid of bad news.

    Thank you
     
  2. Sea

    Sea Senior Member

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    What are their rs numbers?
    Nevermind, saw it in your second link.

    You have the common allele for all 3 of those snps.
     
    Last edited: Aug 25, 2016
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  3. Gene23

    Gene23

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    And that's normal?
     
  4. alicec

    alicec Senior Member

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    Yes. Your 23andme results simply show the nucleotide combination you have for the SNP. You then need to check (for example with dsSNP, which is linked to the rs number in the table of your second link you provided) if this is the ancestral or variant nucleotide.

    In your case you have the ancestral or normal version, not the rare change which seems to be associated with prion disease.

    So nothing to worry about.
     
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  5. Gene23

    Gene23

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    Thank you for taking the time to explain that to me.

    So with that S97N SNP, rs56362942... A/G is the one you don't want? am I reading that correctly? Where does it label the variant?
     
  6. Valentijn

    Valentijn WE ARE KINA

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    23andMe doesn't label the abnormal or problematic SNP, they just list the alleles in alphabetical order. But you can look on dbSNP at http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs56362942 to get more data.

    At the top it says the Ancestral Allele is "G", so GG is the normal version. AA or AG might be the problematic genotypes.
     
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