CSF2RB

colony stimulating factor 2 receptor subunit beta

Summary

The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]

Known Variants609 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18216555822:37,307,954C/Aregulatory region variant—
rs207572622:37,310,046G/C——
rs575640522:37,310,954A/Gintron variant—
rs180754422:37,311,219C/A——
rs6017541122:37,311,858G/Aintron variant—
rs7621823322:37,315,884T/Cintron variant—
rs14164117622:37,316,108C/Tintron variant—
rs4128000522:37,316,133G/C——
rs54900123722:37,316,262T/C——
rs482156922:37,316,873A/C——
rs575640822:37,317,848T/C—benign
rs4128000722:37,317,914T/C—benign
rs1022223222:37,317,970A/G—benign
rs1022223822:37,318,014G/T—benign
rs4128000922:37,318,033T/C—benign
rs11768949022:37,318,121T/G—likely benign
rs11793723322:37,318,175C/T—likely benign
rs214578089022:37,318,250A/T—uncertain significance
rs136362571822:37,318,257T/A—uncertain significance
rs77386901322:37,318,266G/T—uncertain significance
rs75445728722:37,318,277A/G—uncertain significance
rs75539266822:37,318,285G/A—likely benign
rs77788999022:37,318,305G/A—uncertain significance
rs20133188922:37,318,306C/T—likely benign
rs20058821222:37,318,309C/A—likely benign
rs86683252222:37,318,317G/C—uncertain significance
rs7614075322:37,318,318G/A—benign
rs194089401122:37,318,329A/G—uncertain significance
rs74584491222:37,318,334C/T—likely benign
rs76955471922:37,318,335G/A—likely benign
rs130321054822:37,318,339C/T—likely benign
rs228097622:37,318,426T/C—benign
rs207594022:37,318,446G/A—benign
rs11653612422:37,318,479G/A—benign
rs207594122:37,318,515T/C—benign
rs18768366422:37,318,578C/Tregulatory region variant—
rs207594322:37,319,009A/G—benign
rs207270722:37,319,081T/Gintron variantbenign
rs194092156522:37,319,273C/T—likely benign
rs76017432922:37,319,274C/A—likely benign
rs194092173622:37,319,275C/G—likely benign
rs91972301122:37,319,276C/A—likely benign
rs37122001822:37,319,280T/C—likely benign
rs37497198522:37,319,281G/T—likely benign
rs19276020222:37,319,293C/T—benign
rs135575743422:37,319,295C/T—uncertain significance
rs37214517122:37,319,296G/A—likely benign
rs194092264422:37,319,298T/C—uncertain significance
rs214578505322:37,319,305C/G—likely benign
rs37644976922:37,319,309C/A—uncertain significance
rs78129791222:37,319,310G/A—uncertain significance
rs13829919922:37,319,320C/T—likely benign
rs77862687322:37,319,321G/A—uncertain significance
rs19993217722:37,319,326C/T—likely benign
rs14960923222:37,319,358C/T—uncertain significance
rs123452775022:37,319,372C/T—uncertain significance
rs37000067022:37,319,373G/A—uncertain significance
rs77181445522:37,319,377C/T—likely benign
rs36885288822:37,319,378G/A—conflicting classifications of pathogenicity
rs77040737222:37,319,384G/A—uncertain significance
rs194092592822:37,319,387A/G—uncertain significance
rs76341530822:37,319,396C/T—uncertain significance
rs20221548122:37,319,397G/A—uncertain significance
rs103734911922:37,319,398C/G—likely benign
rs77453422522:37,319,399C/T—uncertain significance
rs147307118322:37,319,400G/A—uncertain significance
rs251797483922:37,319,401G/A—likely benign
rs194092692622:37,319,404G/A—likely benign
rs251797488822:37,319,410G/A—uncertain significance
rs37325344322:37,319,421T/C—likely benign
rs207271322:37,319,425T/G—benign
rs11675750122:37,319,436C/G—benign
rs575033922:37,319,589C/G—benign
rs228403122:37,321,080T/Cintron variant—
rs11476645022:37,321,735C/T—benign
rs1305487722:37,321,782C/G—benign
rs600048822:37,321,860A/G—benign
rs11685718622:37,321,973C/T—benign
rs54675243322:37,322,011C/T—likely benign
rs14318145322:37,322,012G/T—likely benign
rs74869584622:37,322,013T/C—likely benign
rs116365789222:37,322,017C/G—likely benign
rs251798204622:37,322,021C/T—likely benign
rs141948599422:37,322,032C/T—likely benign
rs251798210522:37,322,039G/A—uncertain significance
rs138981735822:37,322,046T/A—uncertain significance
rs131680258422:37,322,065T/C—likely benign
rs20096021522:37,322,074C/G—likely benign
rs18695832522:37,322,095C/T—likely benign
rs13887862322:37,322,097G/A—uncertain significance
rs6173683922:37,322,101C/T—benign
rs20066691822:37,322,102G/A—uncertain significance
rs214579499722:37,322,119C/T—likely benign
rs251798239022:37,322,127G/T—uncertain significance
rs105185678922:37,322,132A/T—uncertain significance
rs131490590222:37,322,133G/A—uncertain significance
rs135361612722:37,322,140C/T—likely benign
rs37346018822:37,322,141G/A—conflicting classifications of pathogenicity
rs77825805322:37,322,146T/C—likely benign
rs57326885322:37,322,149C/T—likely benign

Showing 100 of 609 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.