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They're not actually reading your DNA sequence

While you are correct, this does not reduce the accuracy or usability of tests done by a microarray. All of these tests, including whole-genome tests, use statistical probabilities to read every result they find. The result is a process that has proven extremely reliable.

For Smith-Lemli-Opitz syndrome specifically, it is possible to use mass-market DNA tests to determine whether you have the mutations that correlate with the syndrome.

https://www.snpedia.com/index....

Here is info on the chip used and SNPs collected for FTDNA. It's a little under 700,000 SNPs in the RAW data. https://www.snpedia.com/index.php/FamilyTreeDNA

23andMe use SNP arrays (custom Illumina BeadChips) rather than NGS at the moment. The 'raw' data they supply isn't really raw at all, but a processed list of several hundred thousand variant calls:

http://www.snpedia.com/index.p...

You can convert this into something standard like VCF, which most tools that deal with variants will read.

Rs12821256, genotype (C;C) has "2x higher likelihood of blond hair" according to SNPedia (based on earlier work), but this new article claims the G allele is associated with blonde hair. Not sure what that means...

Am I understanding properly that the "KL-VS" variant of KLOTHO is Rs9536314 with genotype "T;T"?

Open source generic engineering for all! Say, would you happen to know the nucleotide sequence for an enormous prick?

Here you go: http://www.snpedia.com/index.p...

Oh wait, maybe you mean the other kind of enormous prick?

"Remember, genes are NOT blueprints. This means you can't, for example, insert 'the genes for an elephant's trunk' into a giraffe and get a giraffe with a trunk. There are no genes for trunks. What you CAN do with genes is chemistry, since DNA codes for chemicals. For instance, we can in theory splice the native plants' talent for nitrogen fixation into a terran plant." -- Academician Prokhor Zakharov, Nonlinear Genetics

From snpedia.com:

The easiest way to make a report is to visit promethease.com. This takes about 10 minutes and costs $5. [...] Promethease is a tool to build a personal DNA report based on SNPedia and a person's genotype (DNA) data. Customers of DNA testing services (23andMe, FamilyTreeDNA, Ancestry.com, Complete Genomics, ...) can use it to learn more about themselves completely independently of whichever company produced their data.

mod parent up - thinking of lactose intolerance as a disorder is European-centric thinking. The genetic markers for the ability to digest lactose into adulthood are fairly well-understood and if you look at the frequency chart on this page you'll see that almost nobody that wasn't descended from Europeans can digest lactose into adulthood.

Also, keep in mind that some drugs are more addictive than others based on a person's genetic makeup. According to 23andMe, I'm more prone to heroin addiction than an average person (2.5 to 9.9 times more likely to become addicted vs the typical individual). Due to the same genetic marker (RS1799971), I'm much more likely to become an alcoholic than the typical person (which makes sense, since my mother was an alcoholic, so I most likely inherited the gene from her).

http://www.snpedia.com/index.php/Rs1799971

http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=1799971

http://spittoon.23andme.com/2011/09/20/snpwatch-genetic-variation-influences-how-we-respond-to-reinforcement/

Conversely though, this genetic marker is also tied to pain tolerance (I have a much higher pain tolerance than a typical person; I was able to go under epi-lasek corrective eye surgery and required no pain medications whatsoever during my recovery period, even though the doctor expected me to need upwards of 20 doses of oxycodone).

The more you know.

Check out http://www.snpedia.com/

'What I'd like to be able to do is have the data, and be able to look up how any discoveries later on map to what I've got. Is that possible?'

You can't do genome sequencing, or even SNP chip genotyping, in a DIY lab, so you'll have to involve a large company or research centre at some point. But you can do this anonymously (e.g. through a physician) and get hold of the raw data afterwards to analyse as you please, assuming you have the technical knowledge to make sense of it. Illumina is one company that provides this sort of service for whole genomes via physicians at a cost of $10,000-20,000 USD:

http://www.everygenome.com/

For much less money (say $200), you can have genotying done and download the SNP calls for future analysis, e.g.:

http://www.snpedia.com/index.php/23andMe

Actually there is some research that rs4795541 is linked to premature ejaculation

SNPedia has been around since August 2006. It's just for SNPs, not entire genes, and focuses on SNPs used in commercial testing, but the layout of SNPedia and the proposed wiki in the paper are fairly similar.

There are 4 snps known to have an influence http://www.snpedia.com/index.php?title=Rs1446109

• variations in 310 genes known to cause disease, were found.
• with 23 which are specifically known to increase the risk of disease

www.SNPedia.com is a resource to help unravel the effects of these variations. We will cross reference the Watson and Venter genomes as soon as they are actually released. To date, the genomes have not been released.