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Opensnp seems to be down right now but from the google cached version of their page for this snp, some ~26% of the (46) users were carriers of this. Two profiles I manage of people who are unrelated to each other and not descended from at-risk or genetically isolated populations are also carriers with no family history of this disease. Seems a bit too unlikely for this many people to be carriers of this specific form of this disease in my opinion. Neverknowsbest (talk) 18:14, 11 September 2015 (UTC)

Yes, as you realize, we are quite suspicious of this too. Are the profiles you have access to all from 23andMe, or even all based on an Illumina platform? If possible, we'd like to understand if the problem call is restricted to 23andMe users; the allele itself is clearly very very rare (1 minor allele seen out of 100,000+) at least according to ExAC. Greg (talk) 01:36, 12 September 2015 (UTC)
Yeah, they are all 23andMe. The v3 profiles were not genotyped, but three of the four v4 profiles are showing as carriers. Two of these three are completely unrelated to another and all are of a general mix of North/West/or East European ancestry. Something is not quite right. Neverknowsbest (talk) 16:17, 12 September 2015 (UTC)
Thanks for checking. I'll edit it now to flag it as a problem for 23andMe users. Greg (talk) 01:40, 13 September 2015 (UTC)