ClinVar indicates this might be a clinical allele of some kind, but lists it as benign.
This BioMed Central PDF indicates that this SNP has a mutation that affects/plays a role in Rheumatoid Arthritis for Spanish/European populations, but I'm having trouble telling which allele it is. This PubMed article seems to indicate that C is the risk allele.
- C is indeed the risk allele discussed in both the poster and the publication you've cited. But it (the C allele) is also the majority allele, with a frequency of 70% or more in many populations, so even if these studies hold when repeated with larger numbers of RA patients, it's unlikely to be much of a risk factor, which might explain why the ClinVar submission is tagged as 'likely benign'. Greg (talk) 20:50, 27 August 2015 (UTC)