CYP7A1

cytochrome P450 family 7 subfamily A member 1

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 endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

Known Variants165 total

rsidPosition (GRCh37)AllelesClassClinVar
rs81928798:59,403,576C/T3 prime UTR variant—
rs15545579638:59,404,029T/C—uncertain significance
rs8887283538:59,404,076T/C—conflicting classifications of pathogenicity
rs1489776088:59,404,080G/A—uncertain significance
rs24870274098:59,404,088G/A—likely benign
rs2011716338:59,404,101C/T—uncertain significance
rs1437254888:59,404,102G/A—uncertain significance
rs12978904408:59,404,139T/A—likely benign
rs7792697248:59,404,140A/G—conflicting classifications of pathogenicity
rs7795803788:59,404,165G/C—uncertain significance
rs15545580128:59,404,167A/G—uncertain significance
rs7477669388:59,404,175C/A—uncertain significance
rs7553428998:59,404,192C/T—uncertain significance
rs7708739458:59,404,201C/T—uncertain significance
rs2013419878:59,404,245A/G—uncertain significance
rs3702367228:59,404,256C/A—uncertain significance
rs1511220028:59,404,257T/C—conflicting classifications of pathogenicity
rs2017871138:59,404,300C/T—uncertain significance
rs1143709048:59,404,301G/A—likely benign
rs7488374338:59,404,316C/T—likely benign
rs12316342828:59,404,320T/C—uncertain significance
rs7788484698:59,404,325T/C—likely benign
rs81928788:59,404,346T/C—benign
rs81928778:59,404,441G/A—benign
rs1860586798:59,404,496C/T—likely benign
rs12297136438:59,404,899G/A—likely benign
rs3684176488:59,404,904G/A—conflicting classifications of pathogenicity
rs7760728878:59,404,909T/C—uncertain significance
rs3723410798:59,404,913A/C—uncertain significance
rs7792519338:59,404,923G/T—uncertain significance
rs1427089918:59,404,935G/C—conflicting classifications of pathogenicity
rs7797075608:59,404,952T/C—uncertain significance
rs24870294948:59,404,955G/A—uncertain significance
rs3753007078:59,404,963A/G—likely benign
rs1174239328:59,404,998C/T—uncertain significance
rs7614204138:59,405,008G/C—uncertain significance
rs1386079438:59,405,027T/A—uncertain significance
rs5394854288:59,405,036C/T—uncertain significance
rs1492914868:59,405,037G/A—uncertain significance
rs13246341158:59,405,046G/C—uncertain significance
rs11744932218:59,405,050G/A—uncertain significance
rs13513204628:59,405,061G/A—uncertain significance
rs1445315068:59,405,068C/T—likely benign
rs1127849718:59,406,490C/Tintron variant—
rs771697168:59,406,884T/C—likely benign
rs1806953548:59,407,054A/G—likely benign
rs3687725138:59,407,063A/T—uncertain significance
rs81928758:59,407,065C/T—benign
rs8860442038:59,407,101A/G—uncertain significance
rs11996907338:59,407,116C/T—uncertain significance
rs14457922408:59,407,148A/G—uncertain significance
rs1471531758:59,407,161C/T—uncertain significance
rs1402882348:59,407,167C/T—uncertain significance
rs24870333368:59,407,189T/C—likely benign
rs8860443538:59,407,199T/G—uncertain significance
rs287085638:59,407,808G/Aintron variant—
rs18094451268:59,409,151G/A—likely benign
rs3735148358:59,409,157A/C—uncertain significance
rs13681150768:59,409,158G/A—uncertain significance
rs3863522958:59,409,164T/A—uncertain significance
rs15545586468:59,409,171T/C—uncertain significance
rs5354286168:59,409,183C/G—uncertain significance
rs24870379588:59,409,191T/C—uncertain significance
rs7664171048:59,409,214G/A—uncertain significance
rs24870380518:59,409,221A/T—uncertain significance
rs18094463158:59,409,222G/A—likely benign
rs24870381268:59,409,226A/G—uncertain significance
rs15545586578:59,409,228C/T—uncertain significance
rs5456096828:59,409,231G/A—likely benign
rs11669151508:59,409,234G/T—uncertain significance
rs21296058808:59,409,249C/T—likely benign
rs24870382098:59,409,252C/T—likely benign
rs7781996868:59,409,253A/G—uncertain significance
rs10249427828:59,409,256T/G—uncertain significance
rs24870382508:59,409,271A/G—uncertain significance
rs1513206858:59,409,280T/C—uncertain significance
rs1393966178:59,409,292C/A—uncertain significance
rs10261710258:59,409,293G/T—uncertain significance
rs11836206808:59,409,308C/T—uncertain significance
rs1500399578:59,409,322C/A—uncertain significance
rs1465949818:59,409,349C/T—uncertain significance
rs1412994568:59,409,367C/T—uncertain significance
rs7785287208:59,409,368G/C—uncertain significance
rs81928748:59,409,373T/C—likely benign
rs7806680408:59,409,379G/A—uncertain significance
rs14157582998:59,409,389A/C—uncertain significance
rs9113585978:59,409,393G/A—likely benign
rs14509929368:59,409,400G/A—uncertain significance
rs7479429698:59,409,418G/T—uncertain significance
rs24870388668:59,409,429T/G—uncertain significance
rs24870389198:59,409,442T/C—uncertain significance
rs24870389318:59,409,444G/A—likely benign
rs7622521658:59,409,456A/G—likely benign
rs7654559648:59,409,469T/A—likely benign
rs7719010338:59,409,488G/A—uncertain significance
rs3745852038:59,409,490C/T—uncertain significance
rs726474138:59,409,493G/A—uncertain significance
rs7767021938:59,409,499T/C—uncertain significance
rs7709639818:59,409,512T/C—uncertain significance
rs24870392558:59,409,538A/G—uncertain significance

Showing 100 of 165 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.