This entry appears to be in error. According to PharmGKB, the C allele is the risk allele that results in a non-synonymous change. Therefore the table should be fixed to show that C/C results in reduced catalytic activity and toxicity. - JTD
Maybe. This snp occurs on the minus strand (see the box in rs1800462) and since it is an ambiguous flip it is hard to be sure. Can you provide more information to back up that the C here in SNP is being misinterpretted? Cariaso 03:16, 17 January 2010 (UTC)
Actually, I think the entry is right, on second look. My 23andMe profile says I'm C/C, but I was tested by Kaiser Permanente and I know for sure I am a G/G very poor metabolizer of thiopurines. I misread the allele frequencies in the PharmGKB entry. I think I was just mixed up by ambiguity perhaps. - JTD
Both my wife and I are C/C according to 23andMe. It's a 1/40000 chance that we're both carrying the risk allele so I imagine the entry is wrong.
The entry is correct, but it is an ambiguous flip so 23andMe users are who look up their data by hand are overlooking the minus orientation. Promethease is correctly reporting the risk. --- cariaso 00:45, 16 February 2013 (UTC)