23andMe Results

Unexpectedly, I received an email this evening saying that the results from my 23andMe DNA sequencing were ready. As I just blogged, I sent in my saliva sample just 2 weeks ago, and I didnít expect to hear anything for another couple weeks.
There are three main parts to the 23andMe web site, the Gene Journal, the Ancestry section, and the Genome Labs section. I first went to the Ancestry section, and selected the Maternal Ancestry sub section. Up came a Ďheat mapí of the world, showing areas where my ancestors were from. Turns out Iím mainly from the Near East, Europe, Central Asia and Northern Africa. Iím part of the Ashkenazi, Druze and Kurds population. No surprises here.
More interesting was the Gene Journal section. This part of the web site details 14 different traits/predispositions. I learned that I am more likely to be able to taste certain bitter flavors, which explains my hatred of brussels sprouts and other things (see Mom, itís not my fault I was a picky eater!). I have a slightly lower chance of getting Type 1 Diabetes, but a higher chance of getting Type 2 Diabetes. And I have a slightly higher chance of suffering from something called ĎRestless Legs Syndromeí.
But what I hoped would be the most interesting part of the 23andMe experience was the Genome Explorer section of the Genome Labs part of the site. This is the part where you can view the actual SNPs of your genome (or at least the ones that were mapped as part of the process). In the press, this has been referred to as ĎGoogling your DNAí. You can look up SNPs by gene, or you can go to a specific SNP. This is great and all, but pretty meaningless unless you can correlate a gene/SNP to a specific disease or trait. For example, Iím interested in Alzheimerís disease. Recent research suggests that there may be a genetic link to at least some forms of the disease. I wanted to see if I was affected. Googling around, I found that the APOE gene on chromosome 19 is of particular interest, specifically APOE e2, e3 and e4. In the Genome Explorer, I can type in APOE, and it takes me to a listing of 19 SNPs on the APOE gene. Ok, great. But I have no idea which one(s) of those SNPs are the ones weíre talking about and what the mutations are. Without this last bit, the Genome Explorer is basically meaningless.
Iíve sent an email to customer support asking about this. Itís entirely likely that Iím just missing some key piece of information. Iíll post again when I get a response.


  1. The information that you got from 23andMe may include a rs#. Such as rs4420638, rs332 or rs1815739.
    If so you may find http://www.SNPedia.com a helpful starting point for additional information about your snps.

  2. Yes, the SNPs are all indexed by RS numbers. The SNPedia looks like the start of a really interesting resource. I looked up a couple SNPs for Alzheimer’s, but they weren’t sequenced by 23andMe. I did get one hit, with Rs2227564, and now I’m trying to figure out what that means. I’ll dig into this more. Thanks for the pointer!

  3. Hey Mark –
    That’s pretty cool. Thanks for sharing.
    Obviously there is some information that may be interesting, but that may be less than a surprise: I suspect a decent percentage of the world’s population can say that they share the ancestry that you do in some form or another (or do they give you percentages, or narrow it down in some way?).
    And I suspect that most people probably know what they like and don’t like, though perhaps they can’t quite put their fingers on it.
    As to the medical items, will they potentially expand this in the future, if such cross-referencing information becomes available, to make it easier to find?

  4. Chad, they say that they will be expanding the Gene Journal part over time (the section that talks about specific mutations), but it seems like they’re being very conservative. Which is understandable, I suppose.
    The big piece that appears missing is a mapping of disease to SNPs. I just started playing with http://www.SNPedia.com mentioned in an earlier comment, and that appears to be a first attempt at such a map.

  5. you might find this interesting considering your Ashkenazi heritage:

  6. they appear to have a detailed description of how they decide which diseases they are willing to provide information about on their site at https://www.23andme.com/res/pdf/23-03_Vetting_Genetic_Associations.pdf

  7. I was wondering if you have been able to figure out the mtdna. I have a haplogroup that is rather spread out. However, doing some googling I have been able to find out different mutations for this group that would subdivid it further, but I can’t seem to figure out 23andme’s system compared to others. For example there is a “291(T)” on HVR1 – how does this relate to ixxx or rsxxxx?

  8. Ann Turner says:

    Mark, if you or any of your readers are homozygous for the mutation conferring lactase persistence (both alleles are A), I’ld like to compare notes on how far the homozygosity extends along the chromosome.

  9. Ann Turner says:

    Sarah, I believe 23andMe will be giving mtDNA results in a more user-friendly format at some point. Right now, the only thing you can do is go into the Genome Labs section and translate 91 screens of data into differences from the CRS.
    However, I looked for 291, and this is not a locus that 23andMe tests.
    Ann Turner
    co-author (with Megan Smolenyak) of “Trace Your Roots with DNA”

  10. Ann, I am homozygous for lactase persistance.

  11. well ancestry service by 23andme is not so detailed I found more detailed ancestry and ethnicity using genotype data at
    I tested some freely available genotypes available on 23andme. I got satisfactory results on myfamilyhealth.com. They even provide family tree and health recording system. The truth is
    family and questionnaire based prediction is more reliable than genotype based prediction. The time of accurate genotype based prediction will come in next decade.

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