Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

aka c.50_55dup and c.36_37insGGAGTC (p.Val18_Val19insGlyVal)

According to OMIM, this 6-bp insertion variant is often in high linkage disequilibrium with the R139C allele (rs116855232) and the presence of both variants defined the common NUDT15 haplotype *2, which has severely decreased enzyme activity and is therefore associated with thiopurine intolerance.