EDNRA
endothelin receptor type A
Summary
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10305838 | 4:148,400,256 | T/C | upstream gene variant | — |
| rs6842241 | 4:148,400,819 | C/A | regulatory region variant | — |
| rs6841581 | 4:148,401,190 | G/C | — | — |
| rs1801708 | 4:148,402,369 | G/A | regulatory region variant | protective |
| rs10305865 | 4:148,406,533 | T/C | — | benign |
| rs146092355 | 4:148,406,857 | A/G | — | likely benign |
| rs2530291484 | 4:148,406,917 | A/G | — | likely benign |
| rs202012442 | 4:148,406,921 | C/A | — | uncertain significance |
| rs746216943 | 4:148,406,931 | A/G | — | uncertain significance |
| rs2530291787 | 4:148,406,976 | T/C | — | uncertain significance |
| rs752630183 | 4:148,407,012 | C/A | — | uncertain significance |
| rs2126370227 | 4:148,407,022 | C/T | — | likely benign |
| rs2530292102 | 4:148,407,066 | C/T | — | uncertain significance |
| rs1578771203 | 4:148,407,076 | C/T | — | likely benign |
| rs199733601 | 4:148,407,077 | A/C | — | uncertain significance |
| rs2530292137 | 4:148,407,082 | C/A | — | uncertain significance |
| rs192190120 | 4:148,407,089 | A/G | — | benign |
| rs867209946 | 4:148,407,110 | G/A | — | uncertain significance |
| rs144440640 | 4:148,407,119 | G/A | — | uncertain significance |
| rs10305868 | 4:148,407,136 | G/C | — | benign |
| rs367891598 | 4:148,407,141 | G/T | — | uncertain significance |
| rs200498759 | 4:148,407,181 | C/T | — | likely benign |
| rs146147419 | 4:148,407,183 | C/T | — | uncertain significance |
| rs201702493 | 4:148,407,187 | G/A | — | likely benign |
| rs786205230 | 4:148,407,219 | A/G | missense variant | uncertain significance |
| rs867492374 | 4:148,407,230 | G/A | — | uncertain significance |
| rs202159529 | 4:148,407,265 | C/G | — | benign |
| rs199979530 | 4:148,407,266 | C/T | — | likely benign |
| rs10305869 | 4:148,407,279 | G/A | — | benign |
| rs6841473 | 4:148,407,652 | C/T | intron variant | — |
| rs200206289 | 4:148,441,045 | G/A | — | uncertain significance |
| rs1224900173 | 4:148,441,085 | C/T | — | uncertain significance |
| rs777761094 | 4:148,441,086 | G/A | — | likely benign |
| rs1311162653 | 4:148,441,087 | G/T | — | uncertain significance |
| rs4835412 | 4:148,441,139 | G/A | — | benign |
| rs1306565517 | 4:148,441,146 | C/T | — | likely benign |
| rs6843446 | 4:148,446,774 | A/T | — | — |
| rs10003447 | 4:148,447,379 | C/T | intron variant | — |
| rs11936340 | 4:148,448,447 | C/T | intron variant | — |
| rs10028507 | 4:148,448,565 | G/A | intron variant | — |
| rs2048894 | 4:148,451,834 | G/A | regulatory region variant | — |
| rs10305905 | 4:148,453,648 | T/C | — | likely benign |
| rs2126474659 | 4:148,453,757 | G/A | — | likely benign |
| rs201704208 | 4:148,453,774 | T/C | — | uncertain significance |
| rs765457542 | 4:148,453,782 | G/A | — | uncertain significance |
| rs2530403624 | 4:148,453,813 | A/G | — | uncertain significance |
| rs951592080 | 4:148,453,841 | A/T | — | likely benign |
| rs200425226 | 4:148,453,851 | A/G | — | uncertain significance |
| rs2126474873 | 4:148,453,852 | T/C | — | uncertain significance |
| rs752439194 | 4:148,453,866 | G/T | — | likely benign |
| rs1373359006 | 4:148,457,014 | T/C | — | likely benign |
| rs1295549806 | 4:148,457,020 | A/T | — | likely benign |
| rs1469453376 | 4:148,457,037 | A/C | — | uncertain significance |
| rs150937673 | 4:148,457,061 | C/T | — | likely benign |
| rs1396747635 | 4:148,457,085 | G/A | — | likely benign |
| rs1462059537 | 4:148,457,096 | C/T | — | uncertain significance |
| rs200693894 | 4:148,457,097 | G/A | — | likely benign |
| rs140752065 | 4:148,457,109 | C/T | — | likely benign |
| rs2530411036 | 4:148,457,137 | A/G | — | uncertain significance |
| rs753632116 | 4:148,457,150 | T/G | — | uncertain significance |
| rs989646031 | 4:148,457,151 | G/A | — | likely benign |
| rs1730907910 | 4:148,457,191 | A/G | — | likely benign |
| rs10305916 | 4:148,457,326 | G/T | — | benign |
| rs10305917 | 4:148,457,359 | G/A | — | benign |
| rs10305919 | 4:148,457,459 | G/A | intron variant | — |
| rs10305923 | 4:148,460,774 | T/C | — | benign |
| rs6841799 | 4:148,460,790 | C/G | — | benign |
| rs6840375 | 4:148,460,831 | G/A | — | benign |
| rs2530419232 | 4:148,460,969 | C/T | — | uncertain significance |
| rs876657388 | 4:148,460,975 | G/A | missense variant | pathogenic |
| rs2530419456 | 4:148,461,023 | T/A | — | uncertain significance |
| rs5333 | 4:148,461,037 | T/C | synonymous variant | benign |
| rs5334 | 4:148,461,073 | G/A | — | benign |
| rs369936798 | 4:148,461,075 | T/C | — | uncertain significance |
| rs2530419685 | 4:148,461,098 | C/G | — | uncertain significance |
| rs10305924 | 4:148,461,121 | G/A | — | likely benign |
| rs10305925 | 4:148,461,154 | T/C | — | benign |
| rs2292765 | 4:148,461,378 | G/A | — | benign |
| rs2530421278 | 4:148,461,566 | G/A | — | uncertain significance |
| rs2292764 | 4:148,461,604 | T/C | — | likely benign |
| rs1219791712 | 4:148,461,636 | A/C | — | uncertain significance |
| rs10305927 | 4:148,461,691 | A/C | — | benign |
| rs2530425857 | 4:148,463,623 | C/T | — | likely benign |
| rs373752654 | 4:148,463,627 | C/A | — | uncertain significance |
| rs141331809 | 4:148,463,632 | A/G | — | likely benign |
| rs2530425942 | 4:148,463,647 | C/T | — | uncertain significance |
| rs199948683 | 4:148,463,659 | C/G | — | likely benign |
| rs775518063 | 4:148,463,676 | C/T | — | uncertain significance |
| rs1368512467 | 4:148,463,699 | A/G | — | uncertain significance |
| rs200945454 | 4:148,463,745 | G/C | — | benign |
| rs1731146195 | 4:148,463,767 | C/A | — | uncertain significance |
| rs5335 | 4:148,463,840 | G/C | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.