A New Decade of ME Research: The 11th Invest in ME International ME Conference 2016
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TFR2 gene: indels at i6040412 and i6040413 (23andme)

Discussion in 'Genetic Testing and SNPs' started by vlc, Jun 1, 2016.

  1. vlc

    vlc

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    Hello folks
    I'm interested in other people's status for i6040412 and i6040413. I believe these are indels, and I have II at both. I've read various bits and pieces about SNPs in the TFR2 gene that can result in iron overload and a hemochromatosis type 3 condition, but for these two specific indels my googling has led to nothing useful. I can't find out whether it is the norm to have insertions or deletions at these positions. I was hoping other people here might be interested enough to share their results from the 23andme raw data?
    This will probably not enlighten me much but I'm still interested!
    Thanks
     
  2. taniaaust1

    taniaaust1 Senior Member

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    Sth Australia
    hi, I wish I had the energy to follow this one up for you but unfortunately I dont. Back when 23andME were giving out the medical info mine came back warning i had a inherited hemochromatosis gene. I forget now which but it was the lesser known one of the main two. Apparently being female, I dont have to worry about the one I have.
     
  3. alicec

    alicec Senior Member

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    Must be only some chips that test for this. I have no result for either.
     
  4. Valentijn

    Valentijn Senior Member

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    These aren't tested for with those numbers in any of the V3 or V4 chip results which I have access to. But they might be under different "i" numbers or "rs" numbers. What's the "Position" given for those SNPs by 23andMe?
     
  5. vlc

    vlc

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    i6040412 is position 100230619
    i6040413 is position 100238376
     
  6. Valentijn

    Valentijn Senior Member

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    Those SNPs definitely aren't tested on the V3 and V4 chip results that I have.

    The first one is directly to the right of https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=41303468 . It doesn't have an "rs" number, which is why 23andMe is using their "i" number instead. They're probably gathering data to determine what is normal there, so there's really no way for you to guess.

    The second one is rs868823304, and an insertion is the normal version there.
     
  7. vlc

    vlc

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    Thanks so much! I'm just at the beginning of making sense of my raw data, and am struggling with the tools I have at my disposal. I've just realised that, having uploaded my raw data to promethease, it omits the vast majority of the 23andme snps. I have 610,000 entries in my raw data, but only 19,500 entries show in promethease. I had hoped this would be an easier way to sort through the data, but so much is missing.
    Thanks for your help, though. It's very interesting to kmow that 23andme are fishing for data rather than revealing pertinent information in some instances.
     

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