EDAR

ectodysplasin A receptor

Summary

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

Known Variants253 total

rsidPosition (GRCh37)AllelesClassClinVar
rs170370352:109,510,913C/T—likely benign
rs14785172:109,510,937A/G—benign
rs16965431842:109,510,987A/G—uncertain significance
rs5479793482:109,511,174C/A—uncertain significance
rs5662019412:109,511,222A/G—benign
rs1155015412:109,511,285A/G—benign
rs14362686892:109,511,347C/G—uncertain significance
rs2007620712:109,511,463G/A—likely benign
rs7564085082:109,511,565C/G—uncertain significance
rs1898553012:109,511,589C/T—benign
rs8860547372:109,511,602C/T—uncertain significance
rs10423987082:109,511,653C/G—uncertain significance
rs14597751122:109,511,660C/T—uncertain significance
rs5655958162:109,511,685G/A—benign
rs16965614952:109,511,716G/A—uncertain significance
rs108650252:109,511,765A/G—benign
rs16965633932:109,511,800G/A—uncertain significance
rs8860547382:109,511,828G/A—uncertain significance
rs11930033582:109,511,928C/T—uncertain significance
rs1879518422:109,511,997T/C—likely benign
rs1477577902:109,511,999A/C—likely benign
rs8860547392:109,512,044G/C—uncertain significance
rs16965676642:109,512,065C/G—uncertain significance
rs751558692:109,512,115C/A—likely benign
rs8860547402:109,512,137T/G—uncertain significance
rs3725754622:109,512,164G/A—uncertain significance
rs8860547412:109,512,182G/A—uncertain significance
rs1140970292:109,512,230A/G—benign
rs130016992:109,512,234T/C—benign
rs5640520142:109,512,255C/T—uncertain significance
rs739525452:109,512,256G/A—likely benign
rs102067372:109,512,364G/A—likely benign
rs1425293862:109,512,387T/C—uncertain significance
rs37490962:109,512,428G/A—likely benign
rs1152590252:109,512,468G/A—likely benign
rs9679894142:109,512,496T/C—uncertain significance
rs16965827252:109,512,572T/A—uncertain significance
rs37490972:109,512,606A/G—likely benign
rs13487333312:109,512,649A/C—uncertain significance
rs7505399092:109,512,724A/C—uncertain significance
rs7810485952:109,512,738G/T—uncertain significance
rs8860547422:109,512,761A/T—uncertain significance
rs16965912082:109,512,817G/A—uncertain significance
rs8860547432:109,512,864G/A—uncertain significance
rs13867366572:109,512,877C/T—uncertain significance
rs9704403902:109,512,878G/A—uncertain significance
rs12641820942:109,512,916A/G—uncertain significance
rs7583765462:109,512,961C/T—uncertain significance
rs757031162:109,513,035C/T—likely benign
rs1489613712:109,513,109G/A—benign
rs13986722742:109,513,121A/G—uncertain significance
rs7809095252:109,513,172G/A—uncertain significance
rs7684010422:109,513,175C/G—uncertain significance
rs76075632:109,513,321A/C—benign
rs1999846072:109,513,347C/G—likely benign
rs1929396792:109,513,372A/T—likely benign
rs1449969152:109,513,401C/A—uncertain significance
rs5641959222:109,513,405C/T—benign
rs7738850292:109,513,410A/C—pathogenic
rs24706126332:109,513,413C/A—pathogenic
rs12932100732:109,513,416G/A—likely benign
rs16966086352:109,513,417T/C—likely pathogenic
rs16966087022:109,513,418A/G—pathogenic
rs8860547442:109,513,422C/T—uncertain significance
rs24706126972:109,513,428A/G—pathogenic
rs24706127102:109,513,430A/G—pathogenic
rs21053714422:109,513,437C/T—uncertain significance
rs16966093312:109,513,440C/T—uncertain significance
rs24706127752:109,513,443C/T—uncertain significance
rs13885873762:109,513,446C/T—uncertain significance
rs412805792:109,513,464C/T—uncertain significance
rs24706129482:109,513,492G/C—pathogenic
rs16966105942:109,513,496C/G—pathogenic
rs16966106502:109,513,497C/G—likely pathogenic
rs2001989492:109,513,501C/T—likely benign
rs16966108322:109,513,502G/A—pathogenic
rs14311086132:109,513,505C/T—likely pathogenic
rs24706130182:109,513,508A/G—likely pathogenic
rs7517632342:109,513,511C/G—uncertain significance
rs13157805042:109,513,514T/G—uncertain significance
rs5373483492:109,513,527T/C—uncertain significance
rs1159302482:109,513,531G/A—benign
rs8996420682:109,513,535G/A—uncertain significance
rs3690545242:109,513,545C/T—uncertain significance
rs9176382912:109,513,547A/G—conflicting classifications of pathogenicity
rs1498355162:109,513,554C/T—uncertain significance
rs24706134462:109,513,562A/G—uncertain significance
rs1436391202:109,513,567G/A—benign
rs15743619592:109,513,568A/G—uncertain significance
rs1465673372:109,513,572T/G—conflicting classifications of pathogenicity
rs7703699402:109,513,575C/T—conflicting classifications of pathogenicity
rs21053717002:109,513,577G/A—uncertain significance
rs13102968442:109,513,578C/T—pathogenic
rs16966138342:109,513,580A/G—conflicting classifications of pathogenicity
rs24706135802:109,513,582G/A—likely benign
rs1449397412:109,513,591C/T—likely benign
rs12073944952:109,513,598A/G—uncertain significance
rs38277602:109,513,601A/Cmissense variantbenign
rs1492878542:109,513,605C/G—benign
rs16966149282:109,513,616T/C—uncertain significance

Showing 100 of 253 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.