CYP2C9

cytochrome P450 family 2 subfamily C member 9

Pharmacogene

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

Known Variants109 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs114071557	10:94,938,683	A/G	missense variant	—
rs142240658	10:94,938,771	C/T	missense variant	—
rs1364419386	10:94,938,800	G/A	missense variant	—
rs564813580	10:94,938,828	A/G	missense variant	—
rs371055887	10:94,941,897	G/C	missense variant	—
rs1216169538	10:94,941,915	G/A	missense variant	—
rs761033063	10:94,941,976	G/C	missense variant	—
rs762239445	10:94,941,982	G/T	missense variant	—
rs774607211	10:94,942,216	A/G	missense variant	—
rs767576260	10:94,942,230	C/T	missense variant	—
rs12414460	10:94,942,231	G/A	missense variant	—
rs375805362	10:94,942,233	C/T	missense variant	—
rs72558189	10:94,942,234	G/A	missense variant	benign
rs1375956433	10:94,942,243	T/G	missense variant	—
rs200965026	10:94,942,249	C/G	missense variant	—
rs199523631	10:94,942,254	C/T	missense variant	—
rs200183364	10:94,942,255	G/A	missense variant	—
rs141489852	10:94,942,291	G/A	missense variant	—
rs754487195	10:94,942,305	G/A	missense variant	—
rs1289704600	10:94,942,306	C/T	missense variant	—
rs17847037	10:94,942,308	C/T	missense variant	—
rs774550549	10:94,947,785	C/T	missense variant	—
rs1326630788	10:94,947,917	T/C	missense variant	—
rs370100007	10:94,947,939	G/T	missense variant	—
rs772782449	10:94,949,145	C/T	missense variant	—
rs182132442	10:94,972,119	C/A	missense variant	—
rs72558192	10:94,972,179	A/G	missense variant	—
rs988617574	10:94,972,180	C/G	missense variant	—
rs1237225311	10:94,972,233	C/T	missense variant	—
rs147665916	10:94,981,199	G/T	missense variant	—
rs57505750	10:94,981,201	T/C	missense variant	—
rs367826293	10:94,981,225	G/A	missense variant	—
rs1274535931	10:94,981,230	C/A	missense variant	—
rs750820937	10:94,981,250	C/A	missense variant	—
rs1297714792	10:94,981,258	C/T	missense variant	—
rs749060448	10:94,981,281	G/A	missense variant	—
rs1250577724	10:94,981,302	C/A	missense variant	—
rs578144976	10:94,981,305	C/G	missense variant	—
rs542577750	10:94,981,371	G/A	splice donor variant	—
rs764211126	10:94,986,042	A/G	missense variant	—
rs72558193	10:94,986,073	A/C	missense variant	—
rs1254213342	10:94,986,136	A/C	missense variant	—
rs1441296358	10:94,986,174	G/C	missense variant	—
rs776908257	10:94,988,852	C/T	missense variant	—
rs769942899	10:94,988,917	G/C	missense variant	—
rs202201137	10:94,988,925	A/G	missense variant	—
rs767284820	10:94,988,955	T/C	missense variant	—
rs781583846	10:94,988,984	G/A	missense variant	—
rs868182778	10:94,989,023	G/T	missense variant	—
rs9332093	10:96,696,555	C/G	upstream gene variant	—
rs61604699	10:96,696,903	G/A	upstream gene variant	—
rs4918758	10:96,697,252	T/A	—	—
rs2031306544	10:96,698,482	C/A	—	uncertain significance
rs67807361	10:96,698,494	C/A	missense variant	—
rs2493000572	10:96,698,542	C/T	—	uncertain significance
rs111691688	10:96,699,682	C/T	downstream gene variant	—
rs1259461542	10:96,701,685	A/T	—	uncertain significance
rs1170075870	10:96,701,696	A/G	—	uncertain significance
rs144043022	10:96,701,710	T/C	—	likely benign
rs2493006903	10:96,701,712	A/G	—	uncertain significance
rs72558187	10:96,701,715	T/C	missense variant	—
rs1799853	10:96,702,047	C/T	missense variant	drug response
rs28371674	10:96,702,099	C/T	missense	—
rs12572351	10:96,703,220	G/C	—	—
rs7089580	10:96,705,223	A/G	—	—
rs4086116	10:96,707,202	C/T	intron variant	—
rs7900194	10:96,707,470	G/A	missense	drug response
rs9332127	10:96,707,471	G/C	intron variant	—
rs72558190	10:96,707,539	C/A	stop gained	—
rs2492587460	10:96,707,600	T/G	—	uncertain significance
rs72558191	10:96,707,676	T/G	missense variant	pathogenic
rs936448529	10:96,707,685	C/T	—	uncertain significance
rs2256871	10:96,708,974	A/G	missense variant	benign
rs776115064	10:96,708,998	A/G	—	uncertain significance
rs9332130	10:96,709,037	A/G	missense variant	—
rs111667734	10:96,719,521	G/A	intron variant	—
rs74494115	10:96,719,845	G/T	intron variant	—
rs80159642	10:96,719,846	A/T	intron variant	—
rs9332146	10:96,722,244	G/A	intron variant	—
rs4917639	10:96,725,535	A/T	—	—
rs55891451	10:96,728,169	A/C	—	—
rs370247558	10:96,730,086	G/C	—	—
rs1226372739	10:96,731,931	C/T	—	uncertain significance
rs28371685	10:96,731,938	C/T	missense	drug response
rs28371686	10:96,731,944	C/G	missense	drug response
rs1204325257	10:96,731,948	A/G	—	uncertain significance
rs1856908	10:96,732,731	T/G	—	association
rs10509680	10:96,734,339	G/T	intron variant	—
rs1934963	10:96,734,676	T/C	intron variant	—
rs758841491	10:96,741,009	A/T	—	uncertain significance
rs1057909	10:96,741,051	A/C	missense variant	—
rs1057910	10:96,741,053	A/C	missense	drug response
rs56165452	10:96,741,054	T/A	missense variant	—
rs1371272359	10:96,741,072	G/T	—	uncertain significance
rs1934967	10:96,741,426	C/T	intron variant	—
rs9332131	10:96,741,723	A/del	frameshift	—
rs1934968	10:96,741,817	A/G	intron variant	—
rs9332220	10:96,743,943	G/A	—	association
rs1352318689	10:96,745,797	C/A	—	uncertain significance
rs76076565	10:96,747,206	G/T	intron variant	—

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.