. Author manuscript; available in PMC: 2022 Jan 28.

Published in final edited form as: Pharmacotherapy. 2020 Oct 19;40(11):1108–1129. doi: 10.1002/phar.2463

Table 1.

Actionable Pharmacogenetic Variants Impacting Response to Fluoropyrimidines

DPYD variant			Minor allele frequency
Haplotype	Nucleotide Change	rsID	EA	AA	Allele function	Enzyme activity¹⁰
HapB3	c.1236G>A	rs56038477	0.024	0.003	Decreased	25% reduction in DPD activity
	c. 1129–5923C>G	rs75017182
	c.2846A>T	rs67376798	0.004	0.003
	c.557A>G	rs115232898	0.000	0.012
*2A	c.1905+1G>A	rs3918290	0.008	0.003	None	50% reduction in DPD activity
*13	c.1679T>G	rs55886062	0.001	0.000	None	50% reduction in DPD activity

AA = African American; EA = European ancestry; rsID = reference SNP cluster ID; DPYD = dihydropyrimidine dehydrogenase.