CHD2

chromodomain helicase DNA binding protein 2

Summary

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants1,715 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88723370015:93,443,640T/C—likely benign
rs88731876815:93,444,042C/T—likely benign
rs54589175715:93,444,066A/G—likely benign
rs105752223715:93,444,421A/G—likely benign
rs19392095315:93,444,469T/C—uncertain significance
rs205252450415:93,444,478A/G—uncertain significance
rs75095595715:93,444,479T/G—uncertain significance
rs205252460115:93,444,487A/G—uncertain significance
rs125172695115:93,444,491C/T—likely benign
rs75472542915:93,444,497G/A—likely benign
rs141124621315:93,444,499A/G—uncertain significance
rs205252504715:93,444,507T/G—uncertain significance
rs116373187815:93,444,509G/C—likely benign
rs106050352215:93,444,511T/C—uncertain significance
rs100984069815:93,444,512A/G—likely benign
rs103404422615:93,444,520A/G—likely benign
rs141259814115:93,444,524A/G—likely benign
rs105752480115:93,444,526C/G—uncertain significance
rs159635987915:93,444,529G/C—uncertain significance
rs250531070515:93,444,532A/G—uncertain significance
rs138533972115:93,444,543A/C—likely benign
rs74802665615:93,444,548C/A—likely benign
rs19968744015:93,444,569T/G—benign
rs56617556015:93,448,173G/C—likely benign
rs140671415:93,461,371C/Gregulatory region variant—
rs7773414915:93,467,337T/C—likely benign
rs802669515:93,467,354G/T—benign
rs382603615:93,467,391C/T—benign
rs75325792115:93,467,532C/T—likely benign
rs125449415615:93,467,534C/G—likely benign
rs37247103615:93,467,536C/G—likely benign
rs155543741915:93,467,538C/A—likely benign
rs250538401115:93,467,546A/G—uncertain significance
rs214174583315:93,467,554C/T—likely benign
rs205301719815:93,467,569A/C—uncertain significance
rs56029613015:93,467,575G/A—likely benign
rs124311978215:93,467,576G/A—uncertain significance
rs37701205615:93,467,586C/T—uncertain significance
rs250538413715:93,467,587A/G—likely benign
rs205301756715:93,467,591A/G—uncertain significance
rs106479458415:93,467,595A/T—uncertain significance
rs37107868015:93,467,599G/A—likely benign
rs78114082915:93,467,628G/A—uncertain significance
rs155543742415:93,467,637G/A—pathogenic
rs205301825515:93,467,639A/G—uncertain significance
rs20175269815:93,467,641C/T—likely benign
rs250538435415:93,467,642G/A—uncertain significance
rs36823702415:93,467,646C/T—likely benign
rs55227168315:93,467,647G/A—likely benign
rs205301844915:93,467,659T/C—likely benign
rs116892988615:93,467,662A/G—likely benign
rs74741586315:93,467,668T/G—likely benign
rs19967088615:93,467,672A/C—uncertain significance
rs88604116515:93,467,673G/A—uncertain significance
rs56899823315:93,467,677G/T—likely benign
rs214174605015:93,467,678T/A—uncertain significance
rs75997462615:93,467,679C/T—uncertain significance
rs14361458115:93,467,680G/A—likely benign
rs205301882415:93,467,682A/C—uncertain significance
rs15091937315:93,467,692C/G—uncertain significance
rs250538456515:93,467,693G/C—uncertain significance
rs98206331915:93,467,695A/T—uncertain significance
rs156712699215:93,467,698A/C—likely benign
rs103494537815:93,467,702G/T—conflicting classifications of pathogenicity
rs14071840315:93,467,707C/G—likely benign
rs14466762715:93,467,713C/G—conflicting classifications of pathogenicity
rs122807692115:93,467,717C/G—uncertain significance
rs250538465615:93,467,718C/T—uncertain significance
rs250538466515:93,467,719A/C—likely benign
rs75128504015:93,467,722C/T—likely benign
rs155543742915:93,467,723C/G—uncertain significance
rs145984064615:93,467,724T/C—conflicting classifications of pathogenicity
rs250538470715:93,467,725C/T—likely benign
rs18616379815:93,467,727C/T—conflicting classifications of pathogenicity
rs214174616415:93,467,728A/G—likely benign
rs54856136615:93,467,733C/G—likely benign
rs250538477015:93,467,735A/C—uncertain significance
rs99067354715:93,467,737A/G—likely benign
rs36796814315:93,467,749C/G—likely benign
rs88604165015:93,467,759G/Tstop gainedpathogenic
rs205302025715:93,467,762C/T—uncertain significance
rs75858701815:93,467,783G/T—likely pathogenic
rs214174624615:93,467,785A/G—pathogenic
rs77793453515:93,467,787C/T—conflicting classifications of pathogenicity
rs135169613615:93,467,789A/G—likely benign
rs77127027215:93,467,800C/T—likely benign
rs56870099715:93,467,801A/G—likely benign
rs139586935215:93,467,802G/A—likely benign
rs7345643015:93,467,894T/A—benign
rs7822302615:93,470,320A/T—likely benign
rs56405912115:93,470,444A/G—benign
rs14788711515:93,470,452G/A—benign
rs19185943115:93,470,454G/A—likely benign
rs74718852215:93,470,456G/C—likely benign
rs75749081815:93,470,457G/A—likely benign
rs78161210915:93,470,506C/G—likely benign
rs13862680115:93,470,509G/A—likely benign
rs104055001415:93,470,510C/A—likely benign
rs86430953415:93,470,514C/Gstop gained—
rs250539334015:93,470,517A/G—uncertain significance

Showing 100 of 1,715 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.