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POLG snps 23andMe

Discussion in 'Genetic Testing and SNPs' started by merylg, Nov 26, 2012.

  1. Symptomatic

    Symptomatic Senior Member

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    What kind of comments (I don't do Facebook)? My kit should be arriving today.
  2. roxie60

    roxie60 Senior Member

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    It looks like people were upset with how 23andMe handled 'promotions', that they were told it would cost $49 and then when they went to ck out the price was changed to $299. The answer 23andMe gave to customers was they were trialing the promotion so some got the discount and others did not (randomly applied?) and that seems to have caused must dissatisfaction but none of the comments seem to be directed at results concerns although there apears a few had some 'lost in the mail results' and did not get satisfaction on that. All said I will probably be ordering my 23andMe in the next 24hrs.
  3. Symptomatic

    Symptomatic Senior Member

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    Thanks for the info. Since I sucked it up and paid full price, I have no dissatisfaction there (other than I wish they were offering a lower price, LOL). If I add up the $ I've spent on doctors and meds this year and last, the $299 pales in comparison, and I'm hoping it will be money well spent and sheds some light on the situation.
    merylg likes this.
  4. roxie60

    roxie60 Senior Member

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    23andMe special $99 tr order!!!! For those waiting here is your chance.
  5. Symptomatic

    Symptomatic Senior Member

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    Wow, in just under the wire...they are giving refunds for orders from 11/26 on, mine went in on 11/27. Whew!
  6. roxie60

    roxie60 Senior Member

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    I am very happy for you, I was wondering if you were going to get the refund and glad you are!!!

    Nice Christmas refund.
  7. snowathlete

    snowathlete

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    Here's are mine added. Order: Lily Mendel, Greg Mendel, merylg, Steve_22, Snowathlete

    rs3176238....TT...TT... CT...CC..CT.
    rs2302084....GG ..GG...AG...AA...AG
    rs2307449....GG ..GG...GT...TT...GT
    rs2074885.... AG...AG...GG...GG...AG
    rs758130......GG...GG...AG...AA...AG
    rs2238296....GG...GG...AG...AA...AG
    rs2247233....TT....TT...CT...CT...CT

    by the way, for those who dont know about it alreadt. SNP Tips is a very handy browser add-on for firefox. And its free. Basically you tell it where on your computer your datafile is (first you need to download a copy from 23andme) and then when an rs number appears on any webpage (like this one) you can hover over the number and a tooltip appears telling you what you are for that rs. Saves you having to look manually. I've found it extremely useful.
    merylg likes this.
  8. roxie60

    roxie60 Senior Member

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    that sounds like a great add-on, thanks
  9. roxie60

    roxie60 Senior Member

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    I'm using the add-on, thanks snowathlete

    Here are my results added. Inserted merylg's gene comments to save hoping back to first page of thread.

    Here's are mine added. Order: 1-Lily Mendel, 2-Greg Mendel, 3-merylg, 4-Steve_22, 5-Snowathlete, 6-Roxie60

    rs3176238....TT...TT... CT...CC..CT....CT
    rs2302084....GG ..GG...AG...AA...AG...AG
    rs2307449....GG ..GG...GT...TT...GT...GT
    rs2074885.... AG...AG...GG...GG...AG...AG
    rs758130......GG...GG...AG...AA...AG...AG
    rs2238296....GG...GG...AG...AA...AG...AG
    rs2247233....TT....TT...CT...CT...CT...CT

    rs3087374...CC...AC...CC....CC....5....CC

    "Mutations in the POLG gene are associated with severalmitochondrial diseases, including Alpers' disease, ataxia-neuropathy disorders, and dominant and recessive forms ofprogressive external ophthalmoplegia. A list of lists all published mutations in the POLG coding region and their associated disease can be found at the Human DNA Polymerase Gamma Mutation Database."

    http://en.wikipedia.org/wiki/POLG

    http://www.snpedia.com/index.php/Rs2307449

    "[PMID 16080118] Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin."

    If you go into openSNP you can find the frequency of alleles & genotypes amongst openSNP users eg

    http://opensnp.org/snps/rs2307449 where you can see I have the most common genotype for that snp, you the next most common & the Mendels (who we thought might be "normal"!!!) actually both have the rarest genotype!

    This (first on POLG list) might be more interesting, as there is more difference in % genotype frequency:
    Once again, looking at POLG gene results for 1-Lily Mendel, 2-Greg Mendel, 3-merylg, 4-steve22, 5-snowathlete, 6-roxie60

    rs3087374...CC...AC...CC....CC....5....CC

    http://opensnp.org/snps/rs3087374 we see that CC is common & AC is quite rare...AA would be extremely rare. Significance? "Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants."
  10. roxie60

    roxie60 Senior Member

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    do we know what the common (non mutation) is for these POLG snp's?
  11. camas

    camas Senior Member

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    I've added mine. I'll leave the analysis to you all because it's beyond my abilities.:)

    Order: 1-Lily Mendel, 2-Greg Mendel, 3-merylg, 4-Steve_22, 5-Snowathlete, 6-Roxie60, 7-camas

    rs3176238.....TT....TT.... CT...CC..CT....CT....CC
    rs2302084....GG ..GG...AG..AA...AG...AG...AA
    rs2307449....GG ..GG...GT...TT.....GT....GT...TT
    rs2074885... AG...AG...GG..GG...AG...AG..AG
    rs758130......GG...GG...AG..AA...AG...AG...AA
    rs2238296....GG...GG...AG..AA...AG...AG...AA
    rs2247233....TT.....TT....CT....CT....CT....CT...CC
    rs3087374....CC...AC...CC...CC....5.....CC..CC
  12. roxie60

    roxie60 Senior Member

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    snowathlete, looks like we match up exactly for these snp's. as usual, not sure how to apply the data....still think if someone identified the 'normal/common(-/-)' alleles we should include them as the first. Or make a note of the risk allele. I look at all this data and have no idea how to determine which are the mutations. Still learning. If anyone knows how to determine the risk allele please advise.

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