EDNRB

endothelin receptor type B

Summary

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Known Variants265 total

rsidPosition (GRCh37)AllelesClassClinVar
rs187857516913:78,469,670A/G—uncertain significance
rs103357081413:78,469,755G/A—uncertain significance
rs13979292413:78,469,872A/G—uncertain significance
rs20026625213:78,469,883C/T—uncertain significance
rs88605031813:78,469,909T/G—uncertain significance
rs88605031913:78,469,980A/G—uncertain significance
rs20062162913:78,470,026A/G—uncertain significance
rs75934005113:78,470,043T/G—uncertain significance
rs18673927713:78,470,077C/A—uncertain significance
rs20017737913:78,470,116T/C—uncertain significance
rs19113672813:78,470,168G/C—uncertain significance
rs20108684713:78,470,170G/A—uncertain significance
rs20043124313:78,470,271A/C—uncertain significance
rs1272020413:78,470,280T/C—uncertain significance
rs19953757913:78,470,288G/A—uncertain significance
rs20027643613:78,470,294A/G—uncertain significance
rs88605032013:78,470,429C/T—uncertain significance
rs88605032113:78,470,475A/C—uncertain significance
rs20131181113:78,470,491T/C—uncertain significance
rs128540358813:78,470,551T/C—uncertain significance
rs302709213:78,470,568G/A—likely benign
rs20217431213:78,470,673A/G—uncertain significance
rs87665780413:78,470,703G/T—uncertain significance
rs20157054313:78,470,735A/G—uncertain significance
rs302709413:78,470,789T/C—likely benign
rs20184537113:78,470,821C/A—uncertain significance
rs20004212013:78,470,822C/G—uncertain significance
rs14321070013:78,470,839C/T—uncertain significance
rs20039480013:78,470,854C/T—uncertain significance
rs88605032213:78,470,861C/T—uncertain significance
rs20223891513:78,470,923G/A—uncertain significance
rs302709513:78,471,025A/G—uncertain significance
rs138106247713:78,471,033C/T—uncertain significance
rs88605032313:78,471,075C/T—uncertain significance
rs132145923513:78,471,184A/T—uncertain significance
rs14239446813:78,471,204A/G—uncertain significance
rs960094713:78,471,432T/C—likely benign
rs88605032413:78,471,476G/A—uncertain significance
rs20111529713:78,471,554C/A—uncertain significance
rs20101204913:78,471,750C/G—uncertain significance
rs132025210713:78,471,760T/C—uncertain significance
rs75062688613:78,471,921C/T—uncertain significance
rs1272020313:78,472,039T/C—conflicting classifications of pathogenicity
rs20184893113:78,472,156C/T—uncertain significance
rs98650003713:78,472,272C/T—uncertain significance
rs20034065313:78,472,332C/T—likely benign
rs213759936813:78,472,339G/A—uncertain significance
rs75702143813:78,472,360G/T—uncertain significance
rs20124324113:78,472,363C/T—uncertain significance
rs75039659113:78,472,364G/A—uncertain significance
rs14456512413:78,472,379C/T—uncertain significance
rs75449824013:78,472,380G/T—likely benign
rs74781375813:78,472,386A/G—likely benign
rs77123928213:78,472,391C/G—uncertain significance
rs20072097813:78,472,400T/C—likely benign
rs20150325013:78,472,407C/T—likely benign
rs20054888513:78,472,408G/A—uncertain significance
rs13931776213:78,472,425G/C—conflicting classifications of pathogenicity
rs187874147513:78,472,436C/G—uncertain significance
rs156630293713:78,472,452C/T—uncertain significance
rs75026032513:78,472,469A/G—uncertain significance
rs15047012913:78,472,665G/T—likely benign
rs20130816813:78,473,968C/T—likely benign
rs74976938813:78,473,977T/C—likely benign
rs88605032513:78,473,979G/A—conflicting classifications of pathogenicity
rs213760318713:78,473,989C/G—uncertain significance
rs213760319913:78,473,992A/G—pathogenic
rs130851023113:78,473,993C/G—pathogenic
rs77353070313:78,474,016T/C—uncertain significance
rs250152610913:78,474,018G/C—uncertain significance
rs250152621413:78,474,035C/T—uncertain significance
rs56757880513:78,474,038T/C—uncertain significance
rs20093968513:78,474,049C/G—uncertain significance
rs250152628913:78,474,050A/G—uncertain significance
rs187884881613:78,474,065C/A—uncertain significance
rs213760333513:78,474,076C/A—uncertain significance
rs213760339013:78,474,085T/A—uncertain significance
rs250152654913:78,474,093C/A—uncertain significance
rs18068689213:78,474,098G/C—uncertain significance
rs187885279113:78,474,116A/G—likely benign
rs733318913:78,474,269C/T—benign
rs381841613:78,474,468A/C—benign
rs229628113:78,474,490C/G—benign
rs250153018313:78,474,655C/T—likely pathogenic
rs250153019313:78,474,656C/A—uncertain significance
rs250153023013:78,474,659A/C—uncertain significance
rs129540280413:78,474,662A/T—uncertain significance
rs250153034013:78,474,666C/G—uncertain significance
rs250153035913:78,474,669A/G—uncertain significance
rs213760474613:78,474,685C/T—likely benign
rs156630464013:78,474,728G/A—conflicting classifications of pathogenicity
rs86680841213:78,474,732G/A—uncertain significance
rs127909210713:78,474,743G/T—uncertain significance
rs20143774513:78,474,768C/T—uncertain significance
rs5736984113:78,474,769G/A—likely benign
rs75954392213:78,474,785C/A—uncertain significance
rs19979824913:78,474,803A/G—uncertain significance
rs75423753013:78,474,804T/C—likely benign
rs55460576213:78,475,177A/G—benign
rs90772201713:78,475,207C/T—uncertain significance

Showing 100 of 265 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.