. Author manuscript; available in PMC: 2014 Apr 1.

Published in final edited form as: Genet Med. 2013 Sep 5;15(10):833–841. doi: 10.1038/gim.2013.109

Table 2. Example genotype to phenotype translations.

Translation entries exist for all encountered genotype combinations and phenotype categories as below, which ultimately drive decision support. There are a total of 971 unique, observed diplotype genotype entries currently, mapping to 19 phenotypes.

Gene name(s)	Raw Genotype Result	Simplified Genotype	Phenotype
Gene name(s)	Raw Genotype Result	Simplified Genotype	Phenotype Category	Phenotype Detail
CYP2C19	(*17 VAR)	17/17	Clopidogrel Sensitivity	rapid metabolizer
CYP2C19	(*4 VAR)	4/4^#	Clopidogrel Sensitivity	poor metabolizer
SLCO1B1	1A/1A	1/1	Simvastatin Sensitivity	normal risk
SLCO1B1	1B HET;(2 HET);*5 HET	1/5	Simvastatin Sensitivity	intermediate risk
VKORC/CYP2C9	VKORC1 -1639G>A No Call, CYP2C9 1A/1A	VKORC1 indeterminate; CYP2C9 1/1	Warfarin Sensitivity	normal responder
VKORC/CYP2C9	VKORC1 -1639G>A No Call, CYP2C9 2 HET;(11 HET);*15 No Call	VKORC1 indeterminate; CYP2C9 1/2	Warfarin Sensitivity	hyper responder
VKORC/CYP2C9	VKORC1 c.-1639 VAR, CYP2C9 *2 HET	VKORC1 -1639 AA; CYP2C9 1/2	Warfarin Sensitivity	hyper responder
VKORC/CYP2C9	VKORC1 NMD, CYP2C9 *2 No Call	VKORC1 -1639 GG; CYP2C9 indeterminate	Warfarin Sensitivity	indeterminate

denotes a Rare Variant