SERPINH1
serpin family H member 1
Summary
This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Known Variants211 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77592601 | 11:75,272,653 | C/T | — | pathogenic |
| rs564033612 | 11:75,273,188 | G/A | — | uncertain significance |
| rs865919284 | 11:75,273,208 | A/G | — | uncertain significance |
| rs185295615 | 11:75,273,210 | G/A | — | benign |
| rs886048660 | 11:75,273,214 | T/C | — | uncertain significance |
| rs78251872 | 11:75,273,326 | G/A | — | benign |
| rs668347 | 11:75,275,479 | T/C | — | — |
| rs606452 | 11:75,276,178 | A/C | intron variant | — |
| rs147548875 | 11:75,277,258 | G/A | — | likely benign |
| rs76649778 | 11:75,277,262 | C/T | — | likely benign |
| rs78910605 | 11:75,277,376 | C/T | — | benign |
| rs1592199909 | 11:75,277,421 | C/T | — | likely benign |
| rs2497011781 | 11:75,277,424 | C/T | — | likely benign |
| rs2135551039 | 11:75,277,440 | G/T | — | uncertain significance |
| rs1320836204 | 11:75,277,445 | G/C | — | likely benign |
| rs369807954 | 11:75,277,448 | C/T | — | likely benign |
| rs778730843 | 11:75,277,449 | G/A | — | uncertain significance |
| rs200397594 | 11:75,277,452 | G/A | — | uncertain significance |
| rs763412073 | 11:75,277,472 | C/T | — | likely benign |
| rs767477512 | 11:75,277,481 | T/A | — | likely benign |
| rs140588417 | 11:75,277,486 | G/C | — | conflicting classifications of pathogenicity |
| rs2135551157 | 11:75,277,488 | A/G | — | uncertain significance |
| rs1346770501 | 11:75,277,489 | C/T | — | uncertain significance |
| rs150061926 | 11:75,277,491 | G/C | — | conflicting classifications of pathogenicity |
| rs1243031165 | 11:75,277,494 | G/A | — | uncertain significance |
| rs555812743 | 11:75,277,496 | G/A | — | likely benign |
| rs752546581 | 11:75,277,498 | A/T | — | uncertain significance |
| rs758409911 | 11:75,277,502 | G/A | — | likely benign |
| rs1281239903 | 11:75,277,513 | C/T | — | uncertain significance |
| rs1942076813 | 11:75,277,527 | G/A | — | uncertain significance |
| rs1251272276 | 11:75,277,533 | A/G | — | uncertain significance |
| rs1592200249 | 11:75,277,544 | G/A | — | likely benign |
| rs540061657 | 11:75,277,554 | T/C | — | conflicting classifications of pathogenicity |
| rs553519612 | 11:75,277,561 | A/G | — | likely benign |
| rs754091752 | 11:75,277,562 | G/A | — | likely benign |
| rs2497012904 | 11:75,277,563 | G/A | — | uncertain significance |
| rs2497012984 | 11:75,277,578 | C/T | — | pathogenic |
| rs576480194 | 11:75,277,582 | C/T | — | likely benign |
| rs868134687 | 11:75,277,608 | G/A | — | uncertain significance |
| rs1942080468 | 11:75,277,615 | T/A | — | uncertain significance |
| rs376824871 | 11:75,277,621 | C/G | — | uncertain significance |
| rs137853892 | 11:75,277,627 | T/C | missense variant | pathogenic |
| rs584961 | 11:75,277,628 | A/G | — | benign |
| rs367576479 | 11:75,277,634 | C/T | — | likely benign |
| rs930740979 | 11:75,277,640 | G/A | — | likely benign |
| rs139127426 | 11:75,277,661 | G/A | — | likely benign |
| rs750020039 | 11:75,277,666 | C/T | — | uncertain significance |
| rs541595707 | 11:75,277,687 | G/A | — | conflicting classifications of pathogenicity |
| rs749665611 | 11:75,277,692 | G/A | — | conflicting classifications of pathogenicity |
| rs377583721 | 11:75,277,699 | T/A | — | uncertain significance |
| rs1485163348 | 11:75,277,702 | G/A | — | uncertain significance |
| rs775801195 | 11:75,277,730 | C/T | — | uncertain significance |
| rs763945752 | 11:75,277,733 | G/C | — | uncertain significance |
| rs200265134 | 11:75,277,740 | C/A | — | conflicting classifications of pathogenicity |
| rs1427687063 | 11:75,277,751 | C/T | — | likely benign |
| rs650241 | 11:75,277,757 | C/G | — | benign |
| rs769945594 | 11:75,277,759 | C/T | — | uncertain significance |
| rs780034600 | 11:75,277,760 | G/C | — | benign |
| rs749500041 | 11:75,277,761 | G/T | — | uncertain significance |
| rs1942088242 | 11:75,277,764 | C/T | — | uncertain significance |
| rs772088561 | 11:75,277,769 | C/G | — | uncertain significance |
| rs760571465 | 11:75,277,787 | C/T | — | conflicting classifications of pathogenicity |
| rs781508942 | 11:75,277,818 | T/C | — | uncertain significance |
| rs2497015088 | 11:75,277,826 | T/G | — | likely benign |
| rs972547822 | 11:75,277,830 | T/C | — | uncertain significance |
| rs1367682527 | 11:75,277,832 | C/T | — | likely benign |
| rs893466223 | 11:75,277,833 | G/A | — | uncertain significance |
| rs1266438725 | 11:75,277,837 | G/A | — | uncertain significance |
| rs1942092237 | 11:75,277,838 | C/T | — | likely benign |
| rs768946201 | 11:75,277,849 | A/G | — | uncertain significance |
| rs1181876772 | 11:75,277,871 | C/T | — | likely benign |
| rs886048661 | 11:75,277,874 | G/C | — | uncertain significance |
| rs112083274 | 11:75,277,875 | A/C | — | conflicting classifications of pathogenicity |
| rs770842307 | 11:75,277,880 | C/G | — | uncertain significance |
| rs150586616 | 11:75,277,886 | C/T | — | conflicting classifications of pathogenicity |
| rs764819709 | 11:75,277,893 | C/A | — | uncertain significance |
| rs1363699917 | 11:75,277,898 | C/T | — | likely benign |
| rs1942095661 | 11:75,277,910 | C/T | — | likely benign |
| rs1018770051 | 11:75,277,916 | C/A | — | uncertain significance |
| rs779175397 | 11:75,277,928 | G/A | — | likely benign |
| rs1166332198 | 11:75,277,937 | C/G | — | likely benign |
| rs758606932 | 11:75,277,941 | G/T | — | uncertain significance |
| rs138784081 | 11:75,277,959 | A/G | — | conflicting classifications of pathogenicity |
| rs745340617 | 11:75,277,967 | C/A | — | uncertain significance |
| rs559687602 | 11:75,277,973 | G/C | — | uncertain significance |
| rs141721173 | 11:75,277,974 | C/A | — | conflicting classifications of pathogenicity |
| rs1232634716 | 11:75,277,982 | C/T | — | conflicting classifications of pathogenicity |
| rs651581 | 11:75,277,992 | C/T | — | benign |
| rs764723506 | 11:75,277,994 | A/C | — | conflicting classifications of pathogenicity |
| rs757033716 | 11:75,278,023 | C/T | — | likely benign |
| rs781004270 | 11:75,278,024 | G/T | — | likely benign |
| rs576964959 | 11:75,278,028 | G/A | — | likely benign |
| rs148644113 | 11:75,278,239 | G/C | — | likely benign |
| rs115945601 | 11:75,278,244 | C/T | — | likely benign |
| rs142147918 | 11:75,278,273 | A/G | — | likely benign |
| rs116279760 | 11:75,278,292 | A/G | — | benign |
| rs11236458 | 11:75,278,666 | C/A | — | — |
| rs646920 | 11:75,279,539 | C/T | — | benign |
| rs764336626 | 11:75,279,756 | G/A | — | likely benign |
| rs780947291 | 11:75,279,773 | C/T | — | uncertain significance |
Showing 100 of 211 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.