CHD1

chromodomain helicase DNA binding protein 1

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. [provided by RefSeq, Jul 2008]

Known Variants217 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24554255:98,191,736T/A
rs12931613415:98,192,094C/Tuncertain significance
rs2001097735:98,192,095G/Auncertain significance
rs17480264435:98,192,112T/Cuncertain significance
rs7554285605:98,192,115G/Auncertain significance
rs792677875:98,192,166G/Auncertain significance
rs12163667685:98,192,175T/Cuncertain significance
rs24793170435:98,192,191T/Cuncertain significance
rs21124357595:98,192,241C/Guncertain significance
rs7491548605:98,192,259T/Gconflicting classifications of pathogenicity
rs21124358075:98,192,260T/Cuncertain significance
rs1428424615:98,192,268G/Abenign
rs3704737365:98,192,286C/Tuncertain significance
rs7634999245:98,192,304C/Tuncertain significance
rs3745646235:98,192,323G/Cuncertain significance
rs7670955415:98,192,331G/Cconflicting classifications of pathogenicity
rs17480550315:98,192,337G/Auncertain significance
rs617496195:98,192,362A/Gbenign
rs1389757655:98,192,363A/Glikely benign
rs21124364405:98,192,367G/Cuncertain significance
rs17480608375:98,192,425A/Guncertain significance
rs7715394535:98,193,911T/Cuncertain significance
rs7659949885:98,193,918G/Auncertain significance
rs24793309075:98,193,930T/Cuncertain significance
rs24793311515:98,193,959G/Cuncertain significance
rs17481907225:98,193,965C/Tuncertain significance
rs24793314155:98,193,987G/Alikely benign
rs1383513275:98,193,990G/Alikely benign
rs727756115:98,193,992C/Tconflicting classifications of pathogenicity
rs2011106765:98,194,025T/Guncertain significance
rs7703901615:98,194,030A/Tuncertain significance
rs1444593085:98,194,062C/Tuncertain significance
rs5739780095:98,194,092C/Tuncertain significance
rs17482048595:98,194,101G/Tuncertain significance
rs24793383995:98,194,663C/Tuncertain significance
rs7655089105:98,194,670G/Auncertain significance
rs1418020265:98,194,682A/Guncertain significance
rs3741666995:98,194,692T/Guncertain significance
rs17482587425:98,194,693C/Auncertain significance
rs5531115415:98,194,709T/Clikely benign
rs7556754645:98,195,688C/Tlikely benign
rs3731479575:98,195,735C/Tuncertain significance
rs13091130225:98,199,095A/Cuncertain significance
rs17486289835:98,199,137G/Tuncertain significance
rs7668102805:98,199,140T/Cuncertain significance
rs24793734725:98,199,154A/Tuncertain significance
rs14470493755:98,199,169T/Cuncertain significance
rs24793737165:98,199,196C/Guncertain significance
rs21124652745:98,199,241C/Tuncertain significance
rs17486356605:98,199,245C/Guncertain significance
rs21124653235:98,199,250T/Cuncertain significance
rs24794159495:98,204,223C/Guncertain significance
rs24794159845:98,204,226T/Clikely benign
rs14226449685:98,204,253T/Clikely benign
rs5432235975:98,204,265C/Tlikely benign
rs3705938575:98,204,270T/Cuncertain significance
rs17490822935:98,204,315T/Cuncertain significance
rs1392156445:98,205,532T/Clikely benign
rs17492008845:98,205,548A/Cuncertain significance
rs2021237105:98,205,557A/Clikely benign
rs17492024385:98,205,567T/Cconflicting classifications of pathogenicity
rs1997622935:98,205,572C/Tlikely benign
rs24794336805:98,205,585C/Guncertain significance
rs1453649995:98,206,082T/Aintron variant
rs1858700585:98,206,428C/Auncertain significance
rs7593769845:98,206,439G/Tlikely benign
rs2008655265:98,206,448G/Alikely benign
rs24794416075:98,206,452G/Cuncertain significance
rs24794417205:98,206,462G/Auncertain significance
rs21123239915:98,207,782C/Tuncertain significance
rs7492984485:98,207,818A/Cuncertain significance
rs15803812825:98,207,828A/Guncertain significance
rs7596475865:98,207,877C/Tuncertain significance
rs21123244585:98,207,879G/Auncertain significance
rs24794590925:98,208,223C/Tuncertain significance
rs9541961355:98,208,249G/Alikely benign
rs17494295585:98,208,256C/Tuncertain significance
rs12965704215:98,208,263G/Tuncertain significance
rs21123342905:98,209,292G/Auncertain significance
rs24794692785:98,209,321T/Cuncertain significance
rs9517934195:98,209,324C/Auncertain significance
rs21123344795:98,209,327T/Cuncertain significance
rs24794695785:98,209,354C/Auncertain significance
rs3768504935:98,209,361T/Clikely benign
rs21123346845:98,209,366G/Cuncertain significance
rs14313551225:98,209,369G/Auncertain significance
rs1997008595:98,212,120C/Tlikely benign
rs1468053815:98,212,135T/Cuncertain significance
rs7473805435:98,212,137C/Auncertain significance
rs17497639215:98,212,145G/Cuncertain significance
rs17497647605:98,212,154G/Auncertain significance
rs17497650205:98,212,163C/Tuncertain significance
rs17497652745:98,212,165C/Auncertain significance
rs21123579955:98,212,241C/Tuncertain significance
rs12758766305:98,212,253T/Cuncertain significance
rs7575439115:98,215,266C/Tuncertain significance
rs9844178845:98,215,345C/Auncertain significance
rs24795208145:98,215,360C/Tlikely pathogenic
rs24795208385:98,215,361C/Guncertain significance
rs24795208645:98,215,368T/Auncertain significance

Showing 100 of 217 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.