SERPINC1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | serpin family C member 1 |
| EntrezGene | 462 |
| PheGenI | 462 |
| VariationViewer | 462 |
| ClinVar | SERPINC1 |
| GeneCards | SERPINC1 |
| dbSNP | 462 |
| Diseases | SERPINC1 |
| SADR | 462 |
| HugeNav | 462 |
| wikipedia | SERPINC1 |
| SERPINC1 | |
| gopubmed | SERPINC1 |
| EVS | SERPINC1 |
| HEFalMp | SERPINC1 |
| MyGene2 | SERPINC1 |
| 23andMe | SERPINC1 |
| UniProt | P01008 |
| Ensembl | ENSG00000117601 |
| OMIM | 107300 |
| # SNPs | 45 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs121909546 | 0 | 173,903,978 | |
| rs121909547 | 7 | 173,914,726 | |
| rs121909548 | 0 | 173,904,038 | |
| rs121909549 | 0 | 173,904,010 | |
| rs121909550 | 0 | 173,904,007 | |
| rs121909551 | 0 | 173,914,743 | |
| rs121909552 | 0 | 173,914,725 | |
| rs121909553 | 0 | 173,914,726 | |
| rs121909554 | 0 | 173,904,011 | |
| rs121909555 | 0 | 173,903,968 | |
| rs121909556 | 0 | 173,904,010 | |
| rs121909557 | 0 | 173,904,044 | |
| rs121909558 | 0 | 173,914,845 | |
| rs121909559 | 0 | 173,904,038 | |
| rs121909560 | 0 | 173,909,737 | |
| rs121909561 | 0 | 173,909,681 | |
| rs121909562 | 0 | 173,911,942 | |
| rs121909563 | 0 | 173,911,941 | |
| rs121909564 | 0 | 173,903,902 | |
| rs121909565 | 0 | 173,909,564 | |
| rs121909566 | 0 | 173,904,013 | |
| rs121909567 | 6 | 173,914,570 | |
| rs121909568 | 0 | 173,904,028 | |
| rs121909569 | 7 | 173,911,981 | |
| rs121909570 | 0 | 173,911,923 | |
| rs121909571 | 0 | 173,910,861 | |
| rs121909572 | 0 | 173,910,849 | |
| rs121909573 | 0 | 173,914,582 | |
| rs199469504 | 0 | 173,911,933 | |
| rs199469505 | 0 | 173,914,750 | |
| rs199469506 | 0 | 173,917,254 | |
| rs199469507 | 0 | 173,914,725 | |
| rs199469508 | 0 | 173,917,217 | |
| rs199469509 | 0 | 173,909,622 | |
| rs201381904 | 7 | 173,909,822 | |
| rs2227589 | 0 | 173,917,078 | |
| rs2227598 | 0 | 173,915,033 | |
| rs2227624 | 0 | 173,914,872 | |
| rs28929468 | 0 | 172,150,605 | |
| rs28929469 | 0 | 173,914,795 | |
| rs28930978 | 0 | 173,904,038 | |
| rs387906575 | 0 | 173,914,893 | |
| rs542881762 | 0 | 173,907,528 | |
| rs786204063 | 0 | 173,911,959 | |
| rs863224495 | 0 | 173,909,645 |
Located on chromosome 1, the SERPINC1 gene encodes the antithrombin (previously known as antithrombin III), which is a type of serine protease inhibitor (serpin). At least 220 dominant mutations in the SERPINC1 gene have been found to cause hereditary antithrombin deficiency, which is associated with a strong risk of venous thrombosis.GHR
An Anthrombin Mutation Database (URL) contains several hundred SERPINC1 gene mutations, for both type I and type II types.
