CYP1B1

cytochrome P450 family 1 subfamily B member 1

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. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]

Known Variants411 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs777515179	2:38,070,963	G/GA	frameshift variant	—
rs4986888	2:38,071,026	G/C	missense variant	likely benign
rs4986887	2:38,071,033	C/G	missense variant	—
rs56175199	2:38,071,044	G/A	missense variant	pathogenic
rs56010818	2:38,071,185	C/T	missense variant	pathogenic
rs56305281	2:38,071,218	G/A	missense variant	—
rs765666893	2:38,074,417	G/GAT	frameshift variant	—
rs587778875	2:38,074,520	C/CG	frameshift variant	—
rs72549385	2:38,074,887	C/CA	frameshift variant	—
rs969140341	2:38,294,779	A/T	—	uncertain significance
rs886055986	2:38,294,787	C/T	—	uncertain significance
rs1682335231	2:38,294,801	T/A	—	uncertain significance
rs532039339	2:38,294,841	A/G	—	uncertain significance
rs375588205	2:38,295,105	G/T	—	uncertain significance
rs886055987	2:38,295,205	A/T	—	uncertain significance
rs746236755	2:38,295,268	T/C	—	uncertain significance
rs886055988	2:38,295,366	A/G	—	uncertain significance
rs572548236	2:38,295,367	A/G	—	uncertain significance
rs162549	2:38,295,456	T/A	—	benign
rs9309020	2:38,295,494	A/G	—	likely benign
rs9341268	2:38,295,516	C/T	—	uncertain significance
rs35320531	2:38,295,532	C/T	—	uncertain significance
rs909259463	2:38,295,561	T/G	—	uncertain significance
rs1682355981	2:38,295,576	C/A	—	uncertain significance
rs77534033	2:38,295,604	T/G	—	likely benign
rs949462503	2:38,295,656	T/C	—	uncertain significance
rs9341267	2:38,295,658	C/T	—	uncertain significance
rs112948057	2:38,295,707	A/G	—	likely benign
rs886055989	2:38,295,714	A/G	—	uncertain significance
rs767403314	2:38,295,904	C/G	—	uncertain significance
rs1235898139	2:38,295,909	T/C	—	uncertain significance
rs570132783	2:38,295,927	C/T	—	uncertain significance
rs1405956907	2:38,295,955	T/C	—	uncertain significance
rs34544682	2:38,295,957	C/T	—	uncertain significance
rs886055990	2:38,295,970	G/A	—	uncertain significance
rs9341266	2:38,295,994	G/A	downstream gene variant	benign
rs9341265	2:38,296,012	C/A	—	likely benign
rs900163227	2:38,296,067	A/C	—	uncertain significance
rs750990195	2:38,296,084	A/G	—	uncertain significance
rs1682371906	2:38,296,099	C/T	—	uncertain significance
rs34169771	2:38,296,119	A/G	—	uncertain significance
rs886055991	2:38,296,135	T/C	—	uncertain significance
rs189809220	2:38,296,182	T/C	—	uncertain significance
rs572531079	2:38,296,254	C/T	—	uncertain significance
rs886055992	2:38,296,264	G/A	—	uncertain significance
rs34474461	2:38,296,304	T/G	—	uncertain significance
rs1682376790	2:38,296,321	C/T	—	uncertain significance
rs562799717	2:38,296,374	C/A	—	uncertain significance
rs137915099	2:38,296,405	T/C	—	uncertain significance
rs886055993	2:38,296,415	A/G	—	uncertain significance
rs960122791	2:38,296,519	T/C	—	uncertain significance
rs570388762	2:38,296,596	A/T	—	uncertain significance
rs759611970	2:38,296,724	T/C	—	uncertain significance
rs886055994	2:38,296,786	G/C	—	uncertain significance
rs77105857	2:38,296,790	C/G	—	uncertain significance
rs185371002	2:38,296,803	C/A	—	uncertain significance
rs187540802	2:38,296,809	C/G	—	uncertain significance
rs35978993	2:38,296,860	G/A	—	uncertain significance
rs9341262	2:38,296,884	A/G	—	uncertain significance
rs34521017	2:38,296,885	T/G	—	uncertain significance
rs2855658	2:38,296,890	C/T	—	benign
rs1682390062	2:38,296,893	A/G	—	uncertain significance
rs1327335898	2:38,296,920	G/A	—	uncertain significance
rs9341261	2:38,296,939	T/G	—	likely benign
rs3755026	2:38,296,948	C/T	—	uncertain significance
rs987237179	2:38,297,001	A/G	—	uncertain significance
rs10916	2:38,297,170	C/A	—	benign
rs1682396717	2:38,297,177	A/G	—	uncertain significance
rs886055995	2:38,297,204	A/T	—	uncertain significance
rs886055996	2:38,297,372	C/T	—	uncertain significance
rs9341260	2:38,297,399	C/T	—	uncertain significance
rs35007750	2:38,297,485	C/T	—	uncertain significance
rs162562	2:38,297,515	T/G	—	benign
rs9341259	2:38,297,632	T/C	—	uncertain significance
rs1799885	2:38,297,747	G/C	—	uncertain significance
rs555706078	2:38,297,750	C/T	—	uncertain significance
rs756083290	2:38,297,760	G/A	—	uncertain significance
rs371252753	2:38,297,822	G/A	—	uncertain significance
rs2465878188	2:38,297,883	G/C	—	likely benign
rs1216032234	2:38,297,897	G/T	—	uncertain significance
rs901961745	2:38,297,904	A/C	—	uncertain significance
rs146770394	2:38,297,907	A/G	—	conflicting classifications of pathogenicity
rs369767017	2:38,297,934	A/C	—	likely benign
rs201985503	2:38,297,940	A/G	—	likely benign
rs750220338	2:38,297,941	T/C	—	conflicting classifications of pathogenicity
rs2465878297	2:38,297,952	T/A	—	likely benign
rs2465878299	2:38,297,955	C/T	—	likely benign
rs1230093540	2:38,297,967	G/C	—	likely benign
rs780644750	2:38,297,976	A/G	—	likely benign
rs145488651	2:38,297,994	C/T	—	benign
rs752180003	2:38,297,995	G/T	—	uncertain significance
rs1275035459	2:38,297,997	A/T	—	likely benign
rs1682414113	2:38,298,000	C/T	—	likely benign
rs776848093	2:38,298,023	C/T	—	uncertain significance
rs147998053	2:38,298,024	G/A	—	likely benign
rs765210749	2:38,298,027	C/T	—	likely benign
rs1320739951	2:38,298,033	A/C	—	likely benign
rs1682415237	2:38,298,037	A/G	—	pathogenic
rs1682415291	2:38,298,038	G/A	—	likely benign
rs2465878424	2:38,298,044	A/G	—	uncertain significance

Showing 100 of 411 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.