Whenever a new study is published linking a specific gene or SNP to a particular trait or health risk I go rushing to my DNA results to see what I have, so I thought I would share how I do that.
My latest worry is my coffee drinking habit.
There are so many coffee and caffeine studies that I am totally confused about what I should be doing. One caveat is that most of these studies are far from comprehensive and all of them need to be taken with a grain of salt. Have they really factored out all the other possibilities that could cause this result? Let’s face it, it’s early days yet in understanding what specific genetic variants do.
Personally when I read one of these articles, the first thing I do is google that gene name to find the associated SNP’s “rs” number so that I can find that variant in my results. For example let’s look at rs762551, a SNP involved in the metabolizing of coffee.
While it is easy to look up a gene or SNP if you have tested at 23andMe or GENOS by using their browse raw data functions, what if you have only tested at Ancestry.com? Or Family Tree DNA, which has deliberately chosen not to test health related SNPs?
It’s actually pretty easy to look up a SNP in your raw data if you have downloaded it.
Those of us who are tested at 23andme and have also done the Y STR test at family tree DNA may wonder when some family tree DNA project manager says “Test SNP so and so” whether that SNP is already tested by 23andme. This post explains how to figure that out. If I have already lost you, then this post may just be too technical or else not your cup of tea. To better understand Y testing read this Y lesson by Kelly Wheaton.
For a good explanation of what a STR versus a SNP is, read Roberta Estes’ post – http://dna-explained.com/2014/02/10/strs-vs-snps-multiple-dna-personalities
So to figure out which SNPs my Dad has already tested, I first created the L11 subset image below of the R1b Y haplogroup SNPs from the beautiful diagram created for R1b by Mike Walsh because I need visuals:
Back to the original question. My Dad is an R1b etc and 23andme uses a four year old haplogroup designator rather than the current ISOGG R haplogroup listing. A visitor to this blog suggested that we test DF100 because that is an interesting subclade we may belong to since we have these SNPs according to 23andme: L11/PF6539/S127, L52/PF6541, P310/PF6546/S129, P311/PF6545/S128.
The diagram shows that the possible downstream SNPs for Dad are U106, DF100, and P312. So how to find out if they are tested at 23andme? Since the haplogroup at 23andme shows L52 as the last SNP can I assume the others are tested?
Maybe you tested your DNA to prove or disprove a genealogical theory. Or maybe you tested to check on your health risks or carrier status. But now you see all these possible 3rd to 5th cousins in your family finder or relative finder lists and you wonder if you are related and if you can find that relationship. Perhaps you contacted a few and had almost no responses.
Yes you are probably related, but without both of you having a good paper trail you would be most lucky to actually find that relationship. It is likely to be further back than suggested if your ancestors were at all endogamous. Just living in the same location for a few hundred years can lead to much inadvertent intermarrying and more common DNA than degree of relationship would expect. So autosomal DNA testing is no genealogical shortcut. Some of the people you contacted already know this, so if they saw no common surnames or places on your profile they may have lost interest.
So be prepared before contacting those likely 3rd to 5th cousins.
- Have an easily readable pedigree chart in both PDF and online format (GEDmatch can do the latter, more on GEDmatch later)
- Another good tool is a list of about 12 generations of ancestors by place name. Much easier for a possible relative to scan.
- Do some reading on the basics. A nice short article on autosomal DNA is this one on about.com and it has some more links.
- Try to talk some close relatives into testing so you have more data to work with
- Last but not least, make a decision on how much time you want to devote to this project … warning it can be addictive
If you want to do the minimum, then scan the localities and surnames of these possible cousins and contact the ones with surnames or place names in common with you. Indicate in your message that this is the reason for contact. Include the URL for your pedigree or family site and offer to send the PDF files. Include your email address if you are using the 23andme messaging system. The more directed the contact, the more likely you will hear back. I recently went through and cancelled some of my early invitations and send new improved ones on the lines above and got four new shares.