CYP2R1

cytochrome P450 family 2 subfamily R 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. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

Known Variants144 total

rsidPosition (GRCh37)AllelesClassClinVar
rs78248894411:14,899,674T/C—likely benign
rs124273004311:14,899,676T/A—uncertain significance
rs78249435111:14,899,692G/A—likely benign
rs20064914211:14,899,695G/A—likely benign
rs78267568011:14,899,722C/T—likely benign
rs136033634011:14,899,738G/T—uncertain significance
rs249423330911:14,899,747T/A—uncertain significance
rs249423340711:14,899,750T/C—uncertain significance
rs36950103211:14,899,776A/C—likely benign
rs155501033411:14,899,777A/G—uncertain significance
rs213400860211:14,899,780A/C—uncertain significance
rs78187562511:14,899,810C/T—uncertain significance
rs14636669811:14,899,811G/A—uncertain significance
rs78274191111:14,899,823C/T—uncertain significance
rs156517605111:14,899,826C/G—uncertain significance
rs78245942711:14,899,833A/G—likely benign
rs36980295211:14,899,862T/C—likely benign
rs78188592111:14,900,640C/G—likely benign
rs78240540211:14,900,643C/T—likely benign
rs20064349411:14,900,644G/A—benign
rs89402434611:14,900,668A/G—uncertain significance
rs78268302811:14,900,687T/C—uncertain significance
rs78251394911:14,900,692G/C—uncertain significance
rs37284903711:14,900,699A/G—uncertain significance
rs20100424011:14,900,710T/C—uncertain significance
rs14042466011:14,900,714G/A—likely benign
rs19988399411:14,900,720G/A—pathogenic
rs249424862511:14,900,758T/C—uncertain significance
rs117517918111:14,900,784T/G—likely benign
rs78206799911:14,900,785G/A—uncertain significance
rs53231170411:14,900,787A/T—likely benign
rs78189416111:14,900,792C/G—uncertain significance
rs249424926811:14,900,794G/C—uncertain significance
rs184827768511:14,900,809A/G—uncertain significance
rs155501089211:14,900,812G/A—uncertain significance
rs78253548411:14,900,824A/T—uncertain significance
rs78224445211:14,900,839G/C—uncertain significance
rs120048662011:14,900,842G/A—uncertain significance
rs11222980711:14,900,843T/C—likely benign
rs18752231411:14,900,844T/G—likely benign
rs78232907411:14,900,848T/C—uncertain significance
rs78215374411:14,900,864G/A—uncertain significance
rs184828379611:14,900,913A/T—likely benign
rs11791312411:14,900,931G/Asynonymous variantlikely benign
rs184828549711:14,900,936A/T—uncertain significance
rs78242229411:14,900,979C/A—uncertain significance
rs78233877111:14,900,994C/G—likely benign
rs37555171011:14,900,998G/C—likely benign
rs78233140411:14,901,009C/T—likely benign
rs1279665911:14,901,495A/T—likely benign
rs249426506511:14,901,665A/G—likely benign
rs36831739311:14,901,687A/G—uncertain significance
rs78211641711:14,901,701G/T—likely benign
rs78270101211:14,901,716C/T—likely benign
rs78260385211:14,901,727G/A—likely benign
rs14762698711:14,901,732T/C—uncertain significance
rs213402079111:14,901,769C/T—uncertain significance
rs155501152311:14,901,783A/C—uncertain significance
rs14563821411:14,901,797G/A—likely benign
rs18454919611:14,901,809T/C—likely benign
rs184832538511:14,901,821A/C—likely benign
rs155501155711:14,901,823C/T—uncertain significance
rs78250373211:14,901,830C/T—uncertain significance
rs20018359911:14,901,831A/G—uncertain significance
rs78182768411:14,901,832T/C—uncertain significance
rs184832722811:14,901,848A/G—likely benign
rs78254923911:14,901,876T/C—uncertain significance
rs147527615311:14,901,884G/A—likely benign
rs89888388011:14,901,938T/G—uncertain significance
rs249427060711:14,901,949G/A—pathogenic
rs78251638711:14,901,971G/A—likely benign
rs78200642511:14,901,981C/T—pathogenic
rs121703754911:14,901,983T/C—likely benign
rs14344885911:14,902,021C/T—uncertain significance
rs11157640011:14,902,031A/G—likely benign
rs55417634411:14,902,067G/A—likely benign
rs78244390911:14,902,076A/G—likely benign
rs78228538211:14,902,087G/A—pathogenic
rs37395952311:14,902,100G/C—uncertain significance
rs126931985211:14,902,105G/T—uncertain significance
rs57233179311:14,902,130C/T—likely benign
rs78197076011:14,902,131G/A—uncertain significance
rs78209148811:14,902,167T/C—uncertain significance
rs78190643411:14,902,185T/C—conflicting classifications of pathogenicity
rs14094797711:14,902,215G/C—uncertain significance
rs57664241111:14,902,249G/A—pathogenic
rs78235306511:14,902,259T/C—likely benign
rs78243767911:14,902,261C/T—uncertain significance
rs78182303311:14,902,291G/A—pathogenic
rs14579488511:14,902,307G/A—likely benign
rs18912729911:14,902,326T/A—likely benign
rs78206874811:14,907,308G/A—likely benign
rs20201162111:14,907,321C/T—pathogenic
rs37508542011:14,907,337T/C—uncertain significance
rs78196989611:14,907,364T/C—uncertain significance
rs6174457111:14,907,379C/T—uncertain significance
rs11182408211:14,907,380G/A—likely benign
rs6149524611:14,907,393A/Gmissense variantpathogenic
rs184859693111:14,907,395G/T—pathogenic
rs155501432111:14,907,400C/A—pathogenic

Showing 100 of 144 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.