HTRA1
HtrA serine peptidase 1
Summary
This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
Known Variants252 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3793917 | 10:124,219,275 | C/G | regulatory region variant | — |
| rs11200638 | 10:124,220,544 | G/A | regulatory region variant | risk factor |
| rs2672598 | 10:124,220,682 | T/A | — | — |
| rs1331849764 | 10:124,221,176 | T/A | — | uncertain significance |
| rs2497575116 | 10:124,221,177 | C/A | — | likely benign |
| rs1325725955 | 10:124,221,178 | C/T | — | uncertain significance |
| rs761008513 | 10:124,221,180 | G/T | — | conflicting classifications of pathogenicity |
| rs900233098 | 10:124,221,183 | C/G | — | likely benign |
| rs755119457 | 10:124,221,188 | C/G | — | uncertain significance |
| rs1312886444 | 10:124,221,195 | C/G | — | likely benign |
| rs996483189 | 10:124,221,202 | C/T | — | conflicting classifications of pathogenicity |
| rs745597966 | 10:124,221,230 | C/T | — | uncertain significance |
| rs1015844850 | 10:124,221,238 | C/T | — | likely benign |
| rs1287832329 | 10:124,221,241 | T/C | — | uncertain significance |
| rs1354122621 | 10:124,221,242 | C/T | — | uncertain significance |
| rs1221335148 | 10:124,221,244 | C/T | — | uncertain significance |
| rs1232818167 | 10:124,221,252 | C/A | — | likely benign |
| rs1381357974 | 10:124,221,260 | C/T | — | uncertain significance |
| rs779504282 | 10:124,221,264 | T/G | — | likely benign |
| rs1049331 | 10:124,221,270 | C/T | synonymous variant | likely benign |
| rs2293870 | 10:124,221,276 | G/T | synonymous variant | likely benign |
| rs2097481408 | 10:124,221,280 | C/G | — | uncertain significance |
| rs981868016 | 10:124,221,286 | C/G | — | uncertain significance |
| rs2097481432 | 10:124,221,292 | G/A | — | uncertain significance |
| rs587776448 | 10:124,221,294 | — | — | pathogenic |
| rs2133905058 | 10:124,221,294 | G/A | — | likely benign |
| rs1435531631 | 10:124,221,295 | C/T | — | uncertain significance |
| rs1473219900 | 10:124,221,301 | C/T | — | uncertain significance |
| rs1394472516 | 10:124,221,306 | C/A | — | uncertain significance |
| rs565162637 | 10:124,221,312 | G/T | — | likely benign |
| rs1451656631 | 10:124,221,316 | C/G | — | uncertain significance |
| rs988724053 | 10:124,221,318 | G/A | — | likely benign |
| rs2097481474 | 10:124,221,320 | A/G | — | uncertain significance |
| rs11538141 | 10:124,221,329 | A/C | — | uncertain significance |
| rs947247701 | 10:124,221,333 | C/A | — | likely benign |
| rs1246114252 | 10:124,221,344 | G/C | — | conflicting classifications of pathogenicity |
| rs1259285601 | 10:124,221,348 | C/T | — | likely benign |
| rs921692583 | 10:124,221,355 | G/T | — | uncertain significance |
| rs2097481536 | 10:124,221,373 | G/C | — | uncertain significance |
| rs2097481554 | 10:124,221,403 | C/T | — | likely pathogenic |
| rs541204010 | 10:124,221,413 | C/G | — | uncertain significance |
| rs1478845443 | 10:124,221,414 | G/C | — | likely benign |
| rs2497576337 | 10:124,221,428 | T/G | — | uncertain significance |
| rs1404163250 | 10:124,221,431 | A/T | — | uncertain significance |
| rs1554948302 | 10:124,221,435 | C/A | — | pathogenic |
| rs2133905276 | 10:124,221,451 | G/T | — | uncertain significance |
| rs1368860603 | 10:124,221,468 | G/A | — | likely benign |
| rs1194513452 | 10:124,221,491 | G/T | — | uncertain significance |
| rs2497576616 | 10:124,221,495 | C/G | — | likely benign |
| rs140088745 | 10:124,221,505 | G/T | — | benign |
| rs1379232919 | 10:124,221,506 | C/T | — | uncertain significance |
| rs765344403 | 10:124,221,519 | G/T | — | likely benign |
| rs1554948318 | 10:124,221,527 | G/A | — | likely pathogenic |
| rs2133905421 | 10:124,221,538 | A/G | — | uncertain significance |
| rs757237545 | 10:124,221,553 | C/T | — | uncertain significance |
| rs1217678902 | 10:124,221,566 | G/A | — | uncertain significance |
| rs2133905461 | 10:124,221,568 | G/A | — | uncertain significance |
| rs530087850 | 10:124,221,583 | T/G | — | conflicting classifications of pathogenicity |
| rs755925985 | 10:124,221,585 | C/G | — | likely benign |
| rs779980320 | 10:124,221,598 | C/T | — | uncertain significance |
| rs952385517 | 10:124,221,602 | C/A | — | uncertain significance |
| rs1005142352 | 10:124,221,605 | C/G | — | uncertain significance |
| rs754645487 | 10:124,221,619 | C/A | missense variant | uncertain significance |
| rs1591022118 | 10:124,221,633 | C/T | — | likely benign |
| rs772637355 | 10:124,221,634 | G/C | — | uncertain significance |
| rs907597851 | 10:124,221,638 | A/G | — | uncertain significance |
| rs1591022148 | 10:124,221,642 | T/C | — | likely pathogenic |
| rs550039968 | 10:124,221,646 | C/A | — | conflicting classifications of pathogenicity |
| rs2284665 | 10:124,226,630 | G/A | — | not provided |
| rs932275 | 10:124,231,464 | G/A | regulatory region variant | — |
| rs80232578 | 10:124,232,915 | C/A | intron variant | — |
| rs79043147 | 10:124,233,181 | C/T | intron variant | — |
| rs72834453 | 10:124,235,226 | T/G | intron variant | — |
| rs12267142 | 10:124,248,242 | C/G | — | benign |
| rs1003685378 | 10:124,248,405 | C/A | — | likely benign |
| rs114877122 | 10:124,248,410 | G/T | — | benign |
| rs2133438318 | 10:124,248,436 | G/A | — | uncertain significance |
| rs2097494390 | 10:124,248,441 | C/T | — | pathogenic |
| rs864622781 | 10:124,248,442 | G/T | missense variant | pathogenic |
| rs35089212 | 10:124,248,449 | A/G | — | likely benign |
| rs781563777 | 10:124,248,462 | G/C | missense variant | pathogenic |
| rs370751496 | 10:124,248,463 | C/T | — | uncertain significance |
| rs768665565 | 10:124,248,468 | G/A | — | uncertain significance |
| rs1554950655 | 10:124,248,481 | T/A | — | likely pathogenic |
| rs2497621656 | 10:124,248,484 | C/T | — | uncertain significance |
| rs993760566 | 10:124,248,485 | C/T | — | likely benign |
| rs1477855514 | 10:124,248,492 | G/A | — | likely pathogenic |
| rs765112668 | 10:124,248,514 | G/A | — | uncertain significance |
| rs757778429 | 10:124,248,529 | C/T | — | likely benign |
| rs3750844 | 10:124,248,537 | T/C | — | benign |
| rs779261850 | 10:124,248,930 | G/A | — | conflicting classifications of pathogenicity |
| rs748367895 | 10:124,248,943 | C/T | — | uncertain significance |
| rs772327746 | 10:124,248,944 | G/A | — | likely benign |
| rs1438223502 | 10:124,248,954 | C/T | — | conflicting classifications of pathogenicity |
| rs1180835237 | 10:124,248,955 | G/A | — | uncertain significance |
| rs773396186 | 10:124,248,964 | C/T | — | uncertain significance |
| rs201878826 | 10:124,248,968 | G/A | — | likely benign |
| rs2497622750 | 10:124,248,975 | G/A | — | uncertain significance |
| rs1554950703 | 10:124,248,979 | C/G | — | pathogenic |
| rs1369379388 | 10:124,248,981 | G/A | — | uncertain significance |
Showing 100 of 252 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.