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From SNPedia

If the A allele confers risk to Canavan disease on rs12948217, does it not also stand to reason that the A allele is also responsible here on rs28940279? According to http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs28940279 it appears that it is. So, the reference of C;C being Canavan disease may be incorrect and might need to be reassessed.

The A is quite rare at rs12948217, but here at rs28940279 its very common.
  • dbSNP shows A as more common
  • omim shows the A being changed to a C as the origin of the disease
So I think the page is correct. --- cariaso 18:40, 4 July 2012 (UTC)