RUNX1

RUNX family transcription factor 1

Summary

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,077 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7917891121:36,160,063A/G—benign
rs18610354321:36,160,182G/A—benign
rs13887067121:36,160,194C/A—benign
rs76139014121:36,160,244C/G—likely benign
rs88605702921:36,160,285G/C—likely benign
rs14169305421:36,160,292G/A—benign
rs7833553921:36,160,400A/G—benign
rs88605703021:36,160,429G/A—uncertain significance
rs18955727721:36,160,455C/T—benign
rs75169571021:36,160,488C/T—uncertain significance
rs18824696021:36,160,711T/A—benign
rs205639616121:36,160,790G/A—uncertain significance
rs156899720321:36,160,794C/T—uncertain significance
rs13937206321:36,160,813T/C—benign
rs88605703121:36,160,844C/G—uncertain significance
rs19325432521:36,160,850C/T—likely benign
rs37393757621:36,160,852A/C—likely benign
rs11337513821:36,160,858T/C—benign
rs104686211021:36,160,875G/A—uncertain significance
rs54801135221:36,160,905A/C—likely benign
rs18366671521:36,160,988T/C—likely benign
rs52900959121:36,161,015T/C—likely benign
rs7912281421:36,161,052T/C—benign
rs5615154721:36,161,087T/A—benign
rs14417528921:36,161,135A/G—uncertain significance
rs205640143521:36,161,151C/A—uncertain significance
rs18784611821:36,161,155C/A—likely benign
rs88605703221:36,161,203G/A—uncertain significance
rs88605703321:36,161,294G/C—uncertain significance
rs7771574021:36,161,342T/C—benign
rs7647838021:36,161,372A/G—benign
rs160132709221:36,161,404A/G—uncertain significance
rs54726840321:36,161,411T/C—likely benign
rs205640596921:36,161,520T/C—uncertain significance
rs14007139521:36,161,546A/G—benign
rs18881241121:36,161,592T/A—benign
rs86768977121:36,161,610G/A—uncertain significance
rs88605703421:36,161,652T/C—uncertain significance
rs7519289321:36,161,662G/C—benign
rs7495091721:36,161,664T/G—benign
rs88605703521:36,161,754T/C—likely benign
rs11232723521:36,161,790C/T—benign
rs7755065721:36,161,806T/C—benign
rs88605703721:36,161,900C/T—benign
rs11266201121:36,161,901G/A—likely benign
rs5620241921:36,161,958A/G—benign
rs57268064321:36,162,056C/T—likely benign
rs88605703921:36,162,066C/T—likely benign
rs98438829521:36,162,085G/T—uncertain significance
rs52936395821:36,162,103T/C—benign
rs88605704021:36,162,112A/C—uncertain significance
rs7574944421:36,162,147T/G—benign
rs90240140121:36,162,231A/C—likely benign
rs11508779721:36,162,427T/C—benign
rs117383392921:36,162,465C/T—likely benign
rs88605704121:36,162,494G/A—uncertain significance
rs36967832521:36,162,609T/G—benign
rs52904429321:36,162,644T/C—likely benign
rs56876603921:36,162,712G/A—benign
rs14479688021:36,162,966C/T—benign
rs88605704221:36,162,977T/C—uncertain significance
rs88605704321:36,163,002G/T—uncertain significance
rs132074076121:36,163,032C/T—uncertain significance
rs19017331421:36,163,072G/A—likely benign
rs86656037621:36,163,137C/T—uncertain significance
rs205642522721:36,163,139T/C—uncertain significance
rs37349109821:36,163,219G/C—uncertain significance
rs119764939821:36,163,274G/C—likely benign
rs5574450821:36,163,294T/G—benign
rs52896914821:36,163,336T/G—benign
rs98343271721:36,163,354T/C—uncertain significance
rs5576766821:36,163,420G/A—benign
rs56670217921:36,163,492C/T—benign
rs55909680621:36,163,499A/G—likely benign
rs813152021:36,163,513T/C—benign
rs96898557721:36,163,611C/T—uncertain significance
rs135221744221:36,163,631T/G—uncertain significance
rs57576925121:36,163,749C/A—benign
rs19174399321:36,163,819T/A—benign
rs75393176721:36,163,845A/T—uncertain significance
rs57346745821:36,163,863A/C—benign
rs7336282721:36,163,873A/G—benign
rs14793467521:36,163,948A/G—benign
rs205643621821:36,163,965A/G—uncertain significance
rs160133061521:36,163,969G/A—uncertain significance
rs36912331621:36,163,996C/G—likely benign
rs53315159421:36,164,003A/G—benign
rs89959648021:36,164,116C/A—uncertain significance
rs101491805321:36,164,165G/T—likely benign
rs56035682821:36,164,168G/A—benign
rs52758942421:36,164,169G/C—likely benign
rs96320070721:36,164,172G/T—uncertain significance
rs146481696721:36,164,237G/A—likely benign
rs100456478021:36,164,298G/A—uncertain significance
rs54984460821:36,164,311C/G—benign
rs18799512321:36,164,319A/G—benign
rs88605704521:36,164,325C/T—likely benign
rs53998090821:36,164,344C/A—benign
rs214587084521:36,164,349C/T—uncertain significance
rs15048177721:36,164,362A/G—benign

Showing 100 of 1,077 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.