RAI1

retinoic acid induced 1

Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]

Known Variants1,597 total

rsidPosition (GRCh37)AllelesClassClinVar
rs235063317:17,587,395A/Gregulatory region variant—
rs7398102117:17,588,905G/Aregulatory region variant—
rs76020454417:17,590,570G/T——
rs721424517:17,591,759T/Aintron variant—
rs807110717:17,607,317T/G——
rs991041117:17,609,246G/Tintron variant—
rs3471762917:17,610,404G/T——
rs53748967917:17,626,985C/A——
rs18528098517:17,627,440G/A—likely benign
rs57559341917:17,627,547G/T—likely benign
rs808013917:17,631,940G/Cintron variant—
rs989449217:17,644,405G/A——
rs1294067517:17,651,214C/A——
rs13873818717:17,660,465G/Adownstream gene variant—
rs18930627917:17,661,766C/Tdownstream gene variant—
rs94144617:17,680,273C/Tcoding sequence variant—
rs1165669917:17,694,761A/G—benign
rs250856625617:17,696,259A/T—uncertain significance
rs214300142817:17,696,267A/G—likely benign
rs203207536617:17,696,269T/G—uncertain significance
rs75520916917:17,696,274T/C—conflicting classifications of pathogenicity
rs214300143417:17,696,275C/T—pathogenic
rs78131298517:17,696,276G/A—uncertain significance
rs76971574417:17,696,277A/G—likely benign
rs77784616117:17,696,283G/A—likely benign
rs128494803917:17,696,285G/A—uncertain significance
rs214300144117:17,696,293C/T—uncertain significance
rs159808655717:17,696,296G/T—uncertain significance
rs214300144317:17,696,297G/A—likely benign
rs250856647517:17,696,298C/T—conflicting classifications of pathogenicity
rs122618769717:17,696,324C/T—conflicting classifications of pathogenicity
rs74915864917:17,696,325G/A—likely benign
rs103188632117:17,696,326C/A—uncertain significance
rs89176432017:17,696,335T/A—likely benign
rs104643587317:17,696,337A/G—likely benign
rs37696404517:17,696,338C/T—conflicting classifications of pathogenicity
rs13916089817:17,696,339G/T—uncertain significance
rs142217238317:17,696,343A/G—likely benign
rs250856671717:17,696,346G/A—likely benign
rs90259192517:17,696,349T/C—likely benign
rs76038646717:17,696,352C/T—likely benign
rs76362816517:17,696,358G/A—likely benign
rs75346157017:17,696,360C/T—conflicting classifications of pathogenicity
rs76353678317:17,696,361G/A—likely benign
rs76704713417:17,696,363G/A—conflicting classifications of pathogenicity
rs11715016117:17,696,370C/T—likely benign
rs20139359817:17,696,371G/A—conflicting classifications of pathogenicity
rs214300146617:17,696,378G/T—conflicting classifications of pathogenicity
rs250856690817:17,696,380T/G—uncertain significance
rs77782610417:17,696,382C/T—likely benign
rs74942815217:17,696,383G/A—uncertain significance
rs20067785517:17,696,386C/T—uncertain significance
rs20036724717:17,696,387G/A—conflicting classifications of pathogenicity
rs37336554917:17,696,391G/A—likely benign
rs77170497017:17,696,392C/T—likely benign
rs14970183317:17,696,393G/A—likely benign
rs74663399717:17,696,395C/A—benign
rs203208078517:17,696,397G/C—likely benign
rs11537959717:17,696,400C/A—likely benign
rs39812441317:17,696,401G/A—likely benign
rs37020900917:17,696,407G/T—benign
rs138275645217:17,696,411A/G—conflicting classifications of pathogenicity
rs214300148117:17,696,412T/C—likely benign
rs96130848017:17,696,415T/A—pathogenic
rs250856716717:17,696,418C/T—likely benign
rs20002131817:17,696,420C/T—benign
rs76770878717:17,696,421G/A—likely benign
rs75317450717:17,696,423A/C—uncertain significance
rs138282827717:17,696,430C/T—likely benign
rs122955388917:17,696,432C/T—benign
rs96354898417:17,696,433G/A—likely benign
rs148801723617:17,696,435G/C—conflicting classifications of pathogenicity
rs124046048917:17,696,438A/G—conflicting classifications of pathogenicity
rs20224031017:17,696,448C/T—likely benign
rs75842439617:17,696,449G/A—likely benign
rs77969708617:17,696,452G/C—uncertain significance
rs53041183417:17,696,456C/T—likely benign
rs37734294017:17,696,457G/A—conflicting classifications of pathogenicity
rs214300149817:17,696,461T/C—conflicting classifications of pathogenicity
rs77638642417:17,696,468C/G—uncertain significance
rs156791333617:17,696,472A/G—likely benign
rs128334042717:17,696,475C/T—likely benign
rs37067165617:17,696,476G/T—uncertain significance
rs75995806717:17,696,478G/A—likely benign
rs76812937917:17,696,484C/T—likely benign
rs56687501517:17,696,485G/T—likely benign
rs14498121217:17,696,487C/T—likely benign
rs93618121317:17,696,488G/A—uncertain significance
rs76446410017:17,696,490C/T—likely benign
rs126421638617:17,696,493G/A—likely benign
rs250856763117:17,696,494T/C—conflicting classifications of pathogenicity
rs214300151517:17,696,498A/G—likely benign
rs75400002617:17,696,500C/T—pathogenic
rs37289638717:17,696,501G/A—conflicting classifications of pathogenicity
rs250856770017:17,696,503G/A—uncertain significance
rs250856773617:17,696,509A/G—uncertain significance
rs57041354917:17,696,514C/T—likely benign
rs250856781717:17,696,518C/T—uncertain significance
rs250856783517:17,696,521A/T—uncertain significance
rs75158371217:17,696,523A/G—likely benign

Showing 100 of 1,597 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.