CFB

complement factor B

Summary

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]

Known Variants390 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17713993146:31,913,800T/C—uncertain significance
rs7550164936:31,913,996G/A—uncertain significance
rs15821306806:31,914,013C/A—likely benign
rs7717890566:31,914,016C/A—uncertain significance
rs17714137906:31,914,022A/G—likely benign
rs41516676:31,914,024T/Amissense variantpathogenic
rs21517799126:31,914,037C/T—likely benign
rs7658345156:31,914,046G/A—likely benign
rs21517799306:31,914,050C/A—uncertain significance
rs12910668816:31,914,060G/A—uncertain significance
rs14110720766:31,914,062G/A—uncertain significance
rs9339314226:31,914,068C/T—uncertain significance
rs14098624396:31,914,073G/C—likely benign
rs24826690826:31,914,081C/G—likely benign
rs3739250496:31,914,140T/C—likely benign
rs9207161196:31,914,142C/G—uncertain significance
rs126146:31,914,179C/Tmissense variantlikely benign
rs6411536:31,914,180G/Amissense variantlikely benign
rs3678922306:31,914,182C/G—uncertain significance
rs24826702496:31,914,195G/A—uncertain significance
rs12710962236:31,914,203G/A—uncertain significance
rs7774992376:31,914,206G/C—uncertain significance
rs12523024096:31,914,209G/T—uncertain significance
rs7674195626:31,914,223C/T—likely benign
rs12784267276:31,914,224G/A—uncertain significance
rs7454799136:31,914,233C/T—uncertain significance
rs7693148436:31,914,234G/A—uncertain significance
rs24826707276:31,914,243A/C—uncertain significance
rs7749233086:31,914,265C/T—likely benign
rs7497620776:31,914,266G/A—uncertain significance
rs17714307206:31,914,267T/A—uncertain significance
rs1867943256:31,914,289G/A—likely benign
rs7609263586:31,914,305C/T—uncertain significance
rs7583290666:31,914,321C/T—uncertain significance
rs21517804406:31,914,332A/G—uncertain significance
rs13975268226:31,914,342A/T—uncertain significance
rs3696388866:31,914,359A/T—conflicting classifications of pathogenicity
rs17714376636:31,914,362G/C—uncertain significance
rs17714378586:31,914,365A/G—uncertain significance
rs13888555046:31,914,366G/C—uncertain significance
rs1382366436:31,914,376G/A—conflicting classifications of pathogenicity
rs13851233546:31,914,401G/C—likely benign
rs131946986:31,914,673C/Tdownstream gene variant—
rs13010657136:31,914,764C/G—uncertain significance
rs21517812486:31,914,769C/A—likely benign
rs17714646406:31,914,771C/T—likely benign
rs7473599566:31,914,773C/G—likely benign
rs7769388576:31,914,774C/T—likely benign
rs9805069646:31,914,786A/G—uncertain significance
rs7674289826:31,914,806C/T—conflicting classifications of pathogenicity
rs8658568896:31,914,807G/A—uncertain significance
rs1428276616:31,914,818C/T—likely benign
rs9501758176:31,914,819G/C—uncertain significance
rs11961641766:31,914,831C/T—uncertain significance
rs7535444386:31,914,834C/T—uncertain significance
rs24826763306:31,914,838C/T—uncertain significance
rs7474745696:31,914,847A/G—uncertain significance
rs17714716536:31,914,848C/T—likely benign
rs7813515146:31,914,863G/T—uncertain significance
rs24826765626:31,914,866C/A—likely benign
rs7699013816:31,914,884C/T—likely benign
rs7756970276:31,914,885G/A—uncertain significance
rs1853678626:31,914,898G/A—uncertain significance
rs12429458276:31,914,912C/T—uncertain significance
rs24826771226:31,914,923A/G—likely benign
rs13612366776:31,914,929T/C—likely benign
rs13804369016:31,914,933C/T—uncertain significance
rs10487096:31,914,935A/Gsynonymous variantbenign
rs13050395356:31,914,940G/A—uncertain significance
rs17714809966:31,914,943G/T—uncertain significance
rs21517817366:31,914,950A/G—likely benign
rs7580098466:31,914,952C/T—uncertain significance
rs13186827506:31,914,953G/A—likely benign
rs7521230386:31,914,965C/T—likely benign
rs24826776836:31,914,976A/C—likely benign
rs7462028206:31,914,982C/T—likely benign
rs21517818686:31,914,984C/T—likely benign
rs7564082106:31,914,986C/A—likely benign
rs5367026796:31,915,105G/A—uncertain significance
rs7564579726:31,915,107T/C—likely benign
rs7551893046:31,915,125C/T—uncertain significance
rs24826794696:31,915,128G/C—uncertain significance
rs24826796006:31,915,141C/T—likely benign
rs7790248326:31,915,143C/T—uncertain significance
rs9901162336:31,915,147C/T—conflicting classifications of pathogenicity
rs7709453246:31,915,150C/G—uncertain significance
rs14463297396:31,915,184C/T—uncertain significance
rs3728580616:31,915,189T/C—likely benign
rs7638247126:31,915,198C/T—likely benign
rs7740516746:31,915,199G/A—uncertain significance
rs24826802696:31,915,201C/T—likely benign
rs7509080736:31,915,217C/T—uncertain significance
rs14405619326:31,915,218G/A—uncertain significance
rs7590637726:31,915,219G/A—likely benign
rs12580316176:31,915,220G/C—uncertain significance
rs11911182596:31,915,223C/T—uncertain significance
rs1131978096:31,915,240C/T—likely benign
rs5374780976:31,915,244C/T—conflicting classifications of pathogenicity
rs7778491056:31,915,245G/A—conflicting classifications of pathogenicity
rs17715079196:31,915,247C/T—uncertain significance

Showing 100 of 390 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.