APOA1

apolipoprotein A1

Summary

This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]

Known Variants245 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1272102511:116,706,047G/Aregulatory region variant—
rs1272102611:116,706,168T/Gregulatory region variant—
rs1271846311:116,706,343T/C—benign
rs508111:116,706,346A/T—benign
rs18733558411:116,706,505G/C—benign
rs37053245911:116,706,507G/A—likely benign
rs254028685611:116,706,538G/C—uncertain significance
rs92350779811:116,706,539C/A—uncertain significance
rs254028690211:116,706,549T/C—uncertain significance
rs139670751011:116,706,551C/T—likely benign
rs254028697411:116,706,556C/G—uncertain significance
rs133507203711:116,706,557G/C—likely benign
rs254028701211:116,706,559G/A—uncertain significance
rs76670924311:116,706,562C/T—uncertain significance
rs138904663111:116,706,563G/A—likely benign
rs77538124111:116,706,567A/C—uncertain significance
rs254028708711:116,706,568G/A—likely benign
rs76056680511:116,706,576A/T—uncertain significance
rs254028716711:116,706,587C/G—uncertain significance
rs508011:116,706,596G/C—likely benign
rs56726896111:116,706,602C/G—likely benign
rs36850316211:116,706,604G/T—uncertain significance
rs123824794911:116,706,614G/A—likely benign
rs254028742111:116,706,617G/A—likely benign
rs194152955511:116,706,623G/C—uncertain significance
rs134149219711:116,706,625G/C—uncertain significance
rs53601195011:116,706,629G/A—likely benign
rs254028753911:116,706,635G/C—likely benign
rs121645177611:116,706,638C/T—likely benign
rs139597242711:116,706,641C/T—likely benign
rs194153080511:116,706,651G/A—uncertain significance
rs213423025211:116,706,660T/C—uncertain significance
rs74940684911:116,706,662C/T—likely benign
rs12191271711:116,706,664C/Tmissense variantpathogenic
rs103878296011:116,706,665G/C—likely benign
rs20039403911:116,706,666G/C—conflicting classifications of pathogenicity
rs75988018211:116,706,670C/G—uncertain significance
rs105642282711:116,706,685C/G—uncertain significance
rs37552970711:116,706,686G/C—likely benign
rs194153210411:116,706,687G/A—uncertain significance
rs254028804011:116,706,689C/T—likely benign
rs254028817311:116,706,699C/T—uncertain significance
rs127077143211:116,706,701G/A—likely benign
rs143947082911:116,706,703C/T—uncertain significance
rs75120775111:116,706,707C/G—uncertain significance
rs78135371411:116,706,717G/A—uncertain significance
rs213423043411:116,706,723A/G—pathogenic
rs75310933011:116,706,726C/G—uncertain significance
rs254028842511:116,706,729G/A—uncertain significance
rs12191273011:116,706,733C/Gmissense variantpathogenic
rs12191272911:116,706,735A/Gmissense variantpathogenic
rs12191272811:116,706,738C/Gmissense variantpathogenic
rs2893157311:116,706,739G/Amissense variantpathogenic
rs74606768311:116,706,751C/A—uncertain significance
rs77235572111:116,706,752G/C—conflicting classifications of pathogenicity
rs116268813311:116,706,759T/C—uncertain significance
rs12191272211:116,706,762G/Cmissense variantpathogenic
rs55806457611:116,706,764G/C—likely benign
rs90242700411:116,706,765G/A—uncertain significance
rs14077008911:116,706,766C/A—conflicting classifications of pathogenicity
rs14318288411:116,706,773C/G—likely benign
rs254028886811:116,706,774G/A—uncertain significance
rs254028889811:116,706,780A/G—uncertain significance
rs128587784111:116,706,784C/T—conflicting classifications of pathogenicity
rs213423065511:116,706,786T/C—likely pathogenic
rs12191272711:116,706,789A/Tmissense variantpathogenic
rs194153715311:116,706,791A/C—uncertain significance
rs96279330411:116,706,794G/C—likely benign
rs126435293011:116,706,798C/G—uncertain significance
rs75108297311:116,706,801G/A—uncertain significance
rs14662368211:116,706,802C/T—uncertain significance
rs141835569911:116,706,805G/C—uncertain significance
rs254028913611:116,706,808C/T—uncertain significance
rs38790657111:116,706,810C/Gmissense variantpathogenic
rs254028915911:116,706,812C/A—uncertain significance
rs101506642711:116,706,816T/A—uncertain significance
rs137834779711:116,706,817C/T—uncertain significance
rs75295147811:116,706,820C/T—uncertain significance
rs37052647011:116,706,821G/T—likely benign
rs137461684111:116,706,825A/G—uncertain significance
rs12191271911:116,706,828G/Cmissense variantpathogenic
rs75789965711:116,706,830G/T—conflicting classifications of pathogenicity
rs132623441511:116,706,831C/G—uncertain significance
rs254028930411:116,706,832T/C—uncertain significance
rs77908148111:116,706,834A/C—pathogenic
rs14142925011:116,706,836C/T—likely benign
rs254028935411:116,706,837T/C—uncertain significance
rs254028937811:116,706,839C/G—uncertain significance
rs75850954211:116,706,840T/C—conflicting classifications of pathogenicity
rs78034739111:116,706,843T/G—uncertain significance
rs74724524811:116,706,845C/G—likely benign
rs76954857611:116,706,848C/A—uncertain significance
rs12191271811:116,706,850C/Tmissense variantpathogenic
rs74916488311:116,706,851G/T—uncertain significance
rs194154093611:116,706,857C/G—uncertain significance
rs144169106611:116,706,863G/C—likely benign
rs142441911411:116,706,868C/T—conflicting classifications of pathogenicity
rs159133002711:116,706,871C/T—uncertain significance
rs159133003411:116,706,873T/C—uncertain significance
rs57406178911:116,706,874C/T—conflicting classifications of pathogenicity

Showing 100 of 245 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.