RELN

reelin

Summary

This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

Known Variants3,033 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18278743217:103,112,402A/G—uncertain significance
rs1878843127:103,112,599G/T—uncertain significance
rs1415504597:103,112,683C/T—likely benign
rs1504589167:103,112,696G/T—benign
rs7753721077:103,112,733T/C—uncertain significance
rs9877842067:103,112,772G/A—uncertain significance
rs78112627:103,112,862C/T—benign
rs5775607867:103,112,885C/G—uncertain significance
rs8791368987:103,112,996A/G—uncertain significance
rs78115717:103,113,108A/G—benign
rs8860618537:103,113,123C/T—uncertain significance
rs10155358117:103,113,124G/A—uncertain significance
rs11620343117:103,113,150C/T—uncertain significance
rs13850400417:103,113,165A/G—uncertain significance
rs7810508427:103,113,177A/G—uncertain significance
rs5608561567:103,113,178T/C—uncertain significance
rs9789148607:103,113,191G/A—uncertain significance
rs1128741757:103,113,192T/C—benign
rs3746066227:103,113,222C/T—uncertain significance
rs24856537067:103,113,261A/G—uncertain significance
rs7664015657:103,113,269C/T—uncertain significance
rs8668982637:103,113,270G/A—uncertain significance
rs13653249777:103,113,274A/G—likely benign
rs2007314117:103,113,284C/T—uncertain significance
rs1393268657:103,113,285G/A—conflicting classifications of pathogenicity
rs1494349867:103,113,287C/T—uncertain significance
rs21169457287:103,113,290C/A—uncertain significance
rs7947278287:103,113,293T/C—uncertain significance
rs2017315437:103,113,302T/C—uncertain significance
rs7557286767:103,113,310C/T—likely benign
rs1164630397:103,113,320C/T—conflicting classifications of pathogenicity
rs7805094347:103,113,328A/C—uncertain significance
rs3776385857:103,113,332A/G—conflicting classifications of pathogenicity
rs12572767387:103,113,336T/C—uncertain significance
rs18279032817:103,113,339A/G—uncertain significance
rs24856541397:103,113,345G/A—likely pathogenic
rs14422660277:103,113,350C/T—uncertain significance
rs13925021527:103,113,354T/G—uncertain significance
rs24856542097:103,113,361A/G—likely benign
rs8860618547:103,113,362A/C—conflicting classifications of pathogenicity
rs1429519977:103,113,414C/T—likely benign
rs1462215887:103,113,432C/T—likely benign
rs743175837:103,118,553C/T—benign
rs18281108237:103,118,828G/T—likely benign
rs7616614487:103,118,835C/T—uncertain significance
rs21169621737:103,118,851A/G—likely benign
rs21169622097:103,118,856A/G—likely benign
rs1848002767:103,119,134T/A—likely benign
rs1141397107:103,123,231G/A—likely benign
rs7736662427:103,123,301C/T—likely benign
rs12371553677:103,123,308A/G—likely benign
rs2000627077:103,123,309T/C—likely benign
rs7644881187:103,123,313T/C—conflicting classifications of pathogenicity
rs1883711967:103,123,324C/T—conflicting classifications of pathogenicity
rs7508348007:103,123,325G/A—likely benign
rs21169757497:103,123,327C/T—uncertain significance
rs7584852617:103,123,333C/T—conflicting classifications of pathogenicity
rs2007614097:103,123,334A/G—benign
rs21169758037:103,123,345C/A—uncertain significance
rs24856864577:103,123,348A/G—uncertain significance
rs7803926927:103,123,349T/G—conflicting classifications of pathogenicity
rs24856864747:103,123,350T/C—uncertain significance
rs18282930577:103,123,352A/T—uncertain significance
rs21169758467:103,123,367A/G—likely benign
rs7470445487:103,123,368T/C—uncertain significance
rs12129762677:103,123,369T/C—uncertain significance
rs7551313497:103,123,374C/T—likely benign
rs7810735317:103,123,375G/A—likely benign
rs14737368327:103,123,389C/T—uncertain significance
rs7729328447:103,123,390G/A—uncertain significance
rs21169759447:103,123,393G/C—uncertain significance
rs24856866147:103,123,395A/G—uncertain significance
rs13504463717:103,123,409C/T—likely benign
rs8665841967:103,123,410C/T—uncertain significance
rs14034590877:103,123,411G/A—uncertain significance
rs10043820757:103,123,427C/T—likely benign
rs578446007:103,123,429C/T—benign
rs24856867097:103,123,436G/A—likely benign
rs1151050427:103,123,458G/A—likely benign
rs1161916627:103,123,600C/G—benign
rs173481227:103,123,991C/T—benign
rs24856890467:103,124,085A/G—likely benign
rs10575212447:103,124,089G/A—likely benign
rs15543606197:103,124,093C/T—likely benign
rs7718694857:103,124,104G/A—uncertain significance
rs7750780437:103,124,105G/A—likely benign
rs12610086097:103,124,108A/G—uncertain significance
rs7603317107:103,124,117C/T—likely benign
rs8860427707:103,124,121C/T—uncertain significance
rs15628418237:103,124,124T/C—uncertain significance
rs7631937637:103,124,129T/C—likely benign
rs24856892977:103,124,130T/C—uncertain significance
rs12889933337:103,124,146G/A—uncertain significance
rs7678769477:103,124,150G/C—uncertain significance
rs7597447827:103,124,158C/T—uncertain significance
rs7677295387:103,124,159G/A—likely benign
rs7527682287:103,124,161T/C—uncertain significance
rs5708077907:103,124,173T/C—likely benign
rs24856895137:103,124,175A/G—uncertain significance
rs9398668817:103,124,177C/G—likely benign

Showing 100 of 3,033 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.