APOA5

apolipoprotein A5

Summary

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

Known Variants195 total

rsidPosition (GRCh37)AllelesClassClinVar
rs96418411:116,648,917G/Cintergenic variant—
rs11462712211:116,660,672G/A—likely benign
rs3408986411:116,660,768G/Aupstream gene variant—
rs61905411:116,660,813G/Aupstream gene variantbenign
rs95451679311:116,660,827C/T—uncertain significance
rs18506085411:116,660,832G/A—benign
rs74904702311:116,660,850G/A—likely benign
rs254024341011:116,660,864T/G—uncertain significance
rs194096895411:116,660,879G/A—uncertain significance
rs194096950811:116,660,901C/T—uncertain significance
rs194096964511:116,660,906G/T—uncertain significance
rs136133161511:116,660,910A/G—likely benign
rs159131241811:116,660,917C/T—uncertain significance
rs254024352211:116,660,920G/A—uncertain significance
rs116437860811:116,660,921C/T—uncertain significance
rs75759808511:116,660,943G/T—likely benign
rs254024358111:116,660,949G/C—uncertain significance
rs125450721311:116,660,966C/G—uncertain significance
rs13794281311:116,660,970G/A—likely benign
rs75158221911:116,660,972C/T—uncertain significance
rs148978318711:116,660,977G/A—uncertain significance
rs20120114711:116,660,983T/A—likely benign
rs93949124611:116,660,991T/G—likely benign
rs95460929111:116,660,996G/C—uncertain significance
rs20073803311:116,661,000C/T—likely benign
rs14329235911:116,661,001G/A—conflicting classifications of pathogenicity
rs77854086711:116,661,005G/A—likely benign
rs14752870711:116,661,008G/Astop gainedpathogenic
rs254024368111:116,661,013T/C—uncertain significance
rs77211886311:116,661,026T/C—uncertain significance
rs101784397811:116,661,029C/T—uncertain significance
rs140329608211:116,661,032G/A—conflicting classifications of pathogenicity
rs77557761211:116,661,040G/A—uncertain significance
rs37008947711:116,661,043C/T—uncertain significance
rs89880685311:116,661,044G/C—uncertain significance
rs37291886311:116,661,051G/A—likely benign
rs97865366711:116,661,056C/T—uncertain significance
rs76134354911:116,661,058A/C—uncertain significance
rs75074419211:116,661,066G/A—likely benign
rs3483273311:116,661,070G/A—conflicting classifications of pathogenicity
rs76680553211:116,661,071T/G—uncertain significance
rs127077918511:116,661,073T/A—uncertain significance
rs75500308211:116,661,080G/A—uncertain significance
rs14020608511:116,661,097T/C—uncertain significance
rs213420276611:116,661,098G/A—likely pathogenic
rs76868170911:116,661,111G/C—likely benign
rs14980840411:116,661,122G/A—conflicting classifications of pathogenicity
rs76927675011:116,661,125G/T—uncertain significance
rs98933233011:116,661,126G/A—likely benign
rs77292248511:116,661,130G/A—uncertain significance
rs57436321911:116,661,143C/T—conflicting classifications of pathogenicity
rs159131265511:116,661,146C/T—uncertain significance
rs194097807411:116,661,152C/T—uncertain significance
rs75270589311:116,661,154G/T—uncertain significance
rs75414231211:116,661,168T/A—uncertain significance
rs75821603311:116,661,170T/A—likely pathogenic
rs213420291111:116,661,175A/G—uncertain significance
rs97849610511:116,661,180T/C—likely benign
rs54337588411:116,661,181T/C—benign
rs74686956811:116,661,182C/T—uncertain significance
rs213420292711:116,661,184C/A—uncertain significance
rs75486171411:116,661,185G/A—uncertain significance
rs78120658111:116,661,187A/G—uncertain significance
rs121618161211:116,661,188G/A—likely benign
rs76937832611:116,661,195C/T—likely benign
rs213420294611:116,661,196A/G—uncertain significance
rs77280510811:116,661,197G/T—uncertain significance
rs77469222011:116,661,205T/C—uncertain significance
rs37619677511:116,661,212G/A—uncertain significance
rs77606514411:116,661,215C/A—uncertain significance
rs123668505111:116,661,231C/T—likely benign
rs75134453711:116,661,238G/T—uncertain significance
rs254024419911:116,661,242G/A—uncertain significance
rs56346207111:116,661,247C/T—uncertain significance
rs14678124911:116,661,249G/C—likely benign
rs140978750911:116,661,251A/G—uncertain significance
rs75605663311:116,661,252G/C—likely benign
rs137553648111:116,661,279C/A—likely benign
rs103857990511:116,661,282G/A—likely benign
rs89739487511:116,661,285G/A—likely benign
rs120529312311:116,661,286C/A—uncertain significance
rs37090647711:116,661,297G/T—uncertain significance
rs7675353611:116,661,301G/A—conflicting classifications of pathogenicity
rs254024434611:116,661,304G/A—uncertain significance
rs37154552411:116,661,309A/G—likely benign
rs254024437511:116,661,317G/A—uncertain significance
rs194098715611:116,661,318C/A—likely benign
rs75070605211:116,661,320G/A—likely benign
rs95593854111:116,661,321C/T—likely benign
rs75920395711:116,661,323C/T—uncertain significance
rs76732368711:116,661,327C/A—likely benign
rs134384770411:116,661,329C/T—uncertain significance
rs75247715611:116,661,330G/C—uncertain significance
rs75328584111:116,661,332G/A—uncertain significance
rs254024440511:116,661,334C/T—likely benign
rs54606054411:116,661,335G/A—uncertain significance
rs77849313311:116,661,338C/A—uncertain significance
rs14048246011:116,661,339G/A—likely benign
rs37470255311:116,661,348C/T—likely benign
rs194098892011:116,661,350C/T—uncertain significance

Showing 100 of 195 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.