PON1
paraoxonase 1
Summary
This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3735590 | 7:94,927,495 | G/A | downstream gene variant | — |
| rs854555 | 7:94,930,391 | A/C | downstream gene variant | — |
| rs7792044 | 7:94,931,271 | T/C | — | benign |
| rs7809060 | 7:94,931,387 | C/T | — | benign |
| rs148911901 | 7:94,931,560 | A/T | — | uncertain significance |
| rs768335187 | 7:94,931,600 | C/T | — | uncertain significance |
| rs752865207 | 7:94,931,629 | G/T | — | uncertain significance |
| rs2237582 | 7:94,934,200 | A/G | intron variant | — |
| rs3917550 | 7:94,934,573 | G/A | intron variant | — |
| rs758954122 | 7:94,935,589 | C/T | — | likely benign |
| rs765474014 | 7:94,935,649 | T/G | — | uncertain significance |
| rs2494738373 | 7:94,935,664 | G/T | — | uncertain significance |
| rs755475189 | 7:94,935,670 | T/C | — | uncertain significance |
| rs3917548 | 7:94,935,905 | A/G | — | benign |
| rs141624867 | 7:94,937,412 | C/T | — | likely benign |
| rs148452713 | 7:94,937,418 | C/T | — | benign |
| rs662 | 7:94,937,446 | T/C | missense variant | risk factor |
| rs2494742361 | 7:94,937,468 | A/T | — | uncertain significance |
| rs3917541 | 7:94,937,624 | A/G | — | benign |
| rs2057681 | 7:94,938,257 | A/G | regulatory region variant | — |
| rs3917534 | 7:94,939,797 | T/A | — | — |
| rs3917532 | 7:94,940,119 | A/T | intron variant | — |
| rs3917529 | 7:94,940,235 | A/G | intron variant | — |
| rs2074354 | 7:94,940,587 | G/A | — | benign |
| rs13306698 | 7:94,940,782 | T/C | — | benign |
| rs144390653 | 7:94,940,880 | A/C | — | likely benign |
| rs148785172 | 7:94,940,884 | C/T | — | uncertain significance |
| rs1157745 | 7:94,941,038 | G/T | — | benign |
| rs2299258 | 7:94,942,917 | G/A | intron variant | — |
| rs3917508 | 7:94,943,629 | G/A | intron variant | — |
| rs377371286 | 7:94,944,006 | G/A | — | — |
| rs748498563 | 7:94,944,665 | G/T | — | uncertain significance |
| rs61736513 | 7:94,944,679 | C/A | — | not provided |
| rs140286786 | 7:94,944,743 | C/T | — | likely benign |
| rs2494753996 | 7:94,944,774 | A/G | — | uncertain significance |
| rs150388378 | 7:94,944,794 | C/T | — | likely benign |
| rs854556 | 7:94,944,923 | C/T | — | benign |
| rs3917502 | 7:94,945,744 | C/T | — | benign |
| rs854559 | 7:94,945,872 | A/G | — | benign |
| rs854560 | 7:94,946,084 | A/T | missense variant | risk factor |
| rs3917498 | 7:94,946,255 | G/T | — | benign |
| rs2074351 | 7:94,947,799 | A/G | — | benign |
| rs854562 | 7:94,947,969 | T/C | — | benign |
| rs854563 | 7:94,948,009 | G/A | regulatory region variant | benign |
| rs3917490 | 7:94,948,841 | C/G | — | — |
| rs2237583 | 7:94,950,177 | C/G | — | — |
| rs3917481 | 7:94,950,765 | C/T | intron variant | — |
| rs11771594 | 7:94,951,662 | G/A | — | — |
| rs141948033 | 7:94,953,733 | T/C | — | likely benign |
| rs201783178 | 7:94,953,736 | T/C | — | uncertain significance |
| rs705379 | 7:94,953,895 | G/C | — | benign |
| rs705380 | 7:94,953,913 | C/G | — | benign |
| rs705381 | 7:94,953,949 | T/C | regulatory region variant | benign |
| rs854571 | 7:94,954,619 | T/C | upstream gene variant | — |
| rs854572 | 7:94,954,696 | C/G | upstream gene variant | — |
| rs705382 | 7:94,955,221 | C/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.