SEMA6B

semaphorin 6B

Summary

This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]

Known Variants157 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57619472319:4,542,107C/G——
rs251218160819:4,543,638T/C—uncertain significance
rs55286414219:4,543,687C/A—likely benign
rs90530999619:4,543,713G/A—uncertain significance
rs197708256319:4,543,725C/T—uncertain significance
rs251218177219:4,543,729T/A—uncertain significance
rs129347196919:4,543,753G/A—likely benign
rs101953111119:4,543,756T/G—uncertain significance
rs96540788019:4,543,764G/T—uncertain significance
rs148090387719:4,543,788C/A—uncertain significance
rs147874073919:4,543,803G/A—uncertain significance
rs94087028619:4,543,837C/T—uncertain significance
rs159977147419:4,543,841G/C—likely benign
rs89677021219:4,543,867T/C—likely benign
rs197708942019:4,543,908G/C—conflicting classifications of pathogenicity
rs86854901819:4,543,916C/G—likely benign
rs53874082619:4,543,922G/T—uncertain significance
rs251218217619:4,543,932G/A—uncertain significance
rs18924092519:4,543,938C/A—likely benign
rs96534716219:4,543,963G/A—uncertain significance
rs120337436519:4,543,965C/G—likely benign
rs122288921019:4,543,966C/T—uncertain significance
rs251218226319:4,543,968T/G—uncertain significance
rs96603543719:4,543,975T/G—uncertain significance
rs115659968919:4,543,978G/A—uncertain significance
rs251218230919:4,543,984C/T—uncertain significance
rs77754130119:4,543,991G/A—likely benign
rs102791451219:4,543,996G/T—uncertain significance
rs95238723819:4,544,005G/T—uncertain significance
rs128959073619:4,544,058A/G—uncertain significance
rs77261853019:4,544,083G/A—uncertain significance
rs90101370019:4,544,098G/C—uncertain significance
rs251218255419:4,544,110G/T—likely benign
rs251218259819:4,544,139G/T—uncertain significance
rs214534233819:4,544,142G/A—likely pathogenic
rs197709964619:4,544,146G/A—uncertain significance
rs140416092019:4,544,154G/A—uncertain significance
rs214534235919:4,544,155T/C—likely pathogenic
rs251218263419:4,544,165C/A—likely benign
rs76602506719:4,544,168C/G—likely benign
rs91806584219:4,544,169G/A—uncertain significance
rs75945329919:4,544,175A/G—likely benign
rs141879866319:4,544,194G/A—likely pathogenic
rs197710175619:4,544,213C/T—likely pathogenic
rs214534243819:4,544,214C/T—conflicting classifications of pathogenicity
rs214534244019:4,544,218C/A—uncertain significance
rs251218270219:4,544,224G/A—pathogenic
rs54085344819:4,544,227T/C—likely benign
rs76386984619:4,544,239G/T—uncertain significance
rs159977203719:4,544,257C/G—uncertain significance
rs137764663919:4,544,259C/T—uncertain significance
rs131496780019:4,544,262G/A—uncertain significance
rs52823255819:4,544,269C/T—likely benign
rs101523860119:4,544,283C/A—uncertain significance
rs75079691819:4,544,289C/G—uncertain significance
rs97088351619:4,544,290C/T—uncertain significance
rs137598060619:4,544,294G/A—likely benign
rs37135262919:4,544,301T/G—benign
rs251218286519:4,544,302G/A—pathogenic
rs56492563619:4,544,313T/C—likely benign
rs74711533819:4,544,314C/A—pathogenic
rs197710674019:4,544,328A/T—uncertain significance
rs20058060119:4,544,342C/T—benign
rs77552611119:4,544,349G/A—uncertain significance
rs20078508719:4,544,357C/G—likely benign
rs75874338519:4,544,400C/T—uncertain significance
rs127904169419:4,544,446C/T—uncertain significance
rs14875371019:4,544,447G/A—likely benign
rs76482115519:4,544,505C/A—uncertain significance
rs197711435719:4,544,512G/C—uncertain significance
rs251218334419:4,544,543T/C—likely pathogenic
rs2873121319:4,544,645T/G——
rs3503865019:4,544,968T/Gupstream gene variant—
rs37341323719:4,546,233C/T—conflicting classifications of pathogenicity
rs251218488219:4,546,240C/G—uncertain significance
rs37643384419:4,546,243A/C—uncertain significance
rs20100072519:4,546,275T/G—likely benign
rs37489757819:4,546,413G/A—uncertain significance
rs36803072619:4,546,433G/A—likely benign
rs14567733419:4,546,439G/A—likely benign
rs480760219:4,548,015G/A—benign
rs37270134719:4,548,030G/A—benign
rs76586524019:4,548,043T/A—likely benign
rs77433259219:4,548,085C/T—likely benign
rs11210529119:4,548,089G/A—likely benign
rs37352146719:4,548,150C/T—likely benign
rs20207617919:4,548,177C/T—likely benign
rs74670817419:4,548,178G/A—likely benign
rs1085397219:4,548,245C/A—benign
rs251218745619:4,548,363T/G—uncertain significance
rs13985783119:4,548,369C/T—likely benign
rs14983388919:4,548,370C/T—likely benign
rs251218751619:4,548,386C/T—uncertain significance
rs19021879819:4,548,671G/Tdownstream gene variant—
rs77742204419:4,550,131C/A—uncertain significance
rs251218959219:4,550,139T/C—uncertain significance
rs77582232019:4,550,154T/A—uncertain significance
rs75112567019:4,550,162G/A—uncertain significance
rs251218963519:4,550,165T/A—uncertain significance
rs75466109219:4,550,174G/A—uncertain significance

Showing 100 of 157 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.