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Serious Newbie here, How do I interpret my results from AnalzyeMyGenes?

Discussion in 'Genetic Testing and SNPs' started by abporter, Nov 5, 2013.

  1. abporter

    abporter

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    Austin, TX
    The only homozygous result I got was:
    rs8176928 16 G 0.37 GG Homozygous

    Where should I go to find out the implications of this and what I might/should do about it? Also should I be concerned about the others that showed up that were not homozygous?
    Thanks!!!
    Last edited: Nov 5, 2013
  2. Valentijn

    Valentijn Activity Level: 3

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    Amersfoort, Netherlands
    That one is actually an error by 23andMe, and can be ignored.

    Some of the "i" number SNPs are pathogenic mutations, which might have an effect when heterozygous.

    There's also a ten_percent file which can be downloaded from http://sourceforge.net/projects/analyzemygenes/files/Databases/ and selected instead of the one_percent file. We've been using that to compare results of ME/CFS patients, to see if we have any rare similarities to each other.
    abporter likes this.
  3. Creekee

    Creekee Senior Member

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    Arizona
    @Valentijn

    How 'bout AG for:

    i5007108
    i5008901

    ?

    Thanks!
  4. Valentijn

    Valentijn Activity Level: 3

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    The "rs" numbers for the "i" numbers are in the "ETC" column, and are much easier to find info on.

    i5007108 is rs74315329 on MYOC, and is a known pathogenic missense mutations. That means that research has found that that specific mutation often causes a specific disease (though sometimes they are wrong, and it's just coincidence). More data regarding that SNP and the research is at http://omim.org/entry/601652#0003 with links to the papers at the bottom of the page.

    Basically it can cause glaucoma, and most of the other pathogenic SNPs on that gene specify that only one copy of the bad allele is needed. And the description states that the problem is inherited in a dominant manner, meaning that being heterozygous is sufficient to get glaucoma. http://www.ncbi.nlm.nih.gov/pubmed/11535458 provides some more detail, specifying that average age at diagnosis is 52.4 (age range of 40-65 at one standard deviation). Also that about 25% of the people in those families who had the mutation and were aged 40+ did not have glaucoma - so it might not hit everyone that has it.

    i5008901 is rs72653095 and according to http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=72653095 it is a missense mutation which means that it causes a structural change to the protein which it makes. Only 0.5% of a very large sample is heterozygous for it, and no one in that sample is homozygous for it. Hence it would seem that SNP has a good chance of having an impact on APOB gene function.

    And: "Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels." So it could be interesting to look up the symptoms of those to see if you have any of them.

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