F5
coagulation factor V
Pharmacogene
Summary
This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]
Known Variants959 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542773186 | 1:169,481,200 | G/T | — | uncertain significance |
| rs6427196 | 1:169,481,223 | C/G | regulatory region variant | likely benign |
| rs369159875 | 1:169,481,403 | G/A | — | uncertain significance |
| rs886045534 | 1:169,481,498 | C/G | — | uncertain significance |
| rs550454517 | 1:169,481,514 | C/T | — | conflicting classifications of pathogenicity |
| rs886045535 | 1:169,481,612 | A/G | — | uncertain significance |
| rs865812546 | 1:169,481,639 | G/A | — | uncertain significance |
| rs145683103 | 1:169,481,694 | C/T | — | uncertain significance |
| rs72708013 | 1:169,481,731 | T/G | — | likely benign |
| rs559071301 | 1:169,481,771 | C/A | — | uncertain significance |
| rs567224548 | 1:169,481,775 | T/C | — | uncertain significance |
| rs763562497 | 1:169,481,836 | A/C | — | uncertain significance |
| rs537882111 | 1:169,481,852 | C/A | — | uncertain significance |
| rs939304311 | 1:169,481,938 | T/C | — | uncertain significance |
| rs2187952 | 1:169,481,950 | G/A | — | likely benign |
| rs1659060074 | 1:169,482,020 | G/A | — | uncertain significance |
| rs75764442 | 1:169,482,063 | A/G | — | conflicting classifications of pathogenicity |
| rs9332678 | 1:169,482,115 | A/T | — | likely benign |
| rs1324064139 | 1:169,482,118 | C/T | — | uncertain significance |
| rs886045536 | 1:169,482,119 | G/A | — | uncertain significance |
| rs950549168 | 1:169,482,147 | C/T | — | uncertain significance |
| rs1557902119 | 1:169,482,250 | T/A | — | uncertain significance |
| rs9332677 | 1:169,482,261 | C/T | — | conflicting classifications of pathogenicity |
| rs527497923 | 1:169,482,294 | T/G | — | uncertain significance |
| rs9332676 | 1:169,482,305 | G/A | — | likely benign |
| rs979200861 | 1:169,482,314 | C/T | — | uncertain significance |
| rs191866237 | 1:169,482,381 | C/T | — | uncertain significance |
| rs185213313 | 1:169,482,419 | T/C | — | uncertain significance |
| rs9332675 | 1:169,482,433 | C/T | — | likely benign |
| rs2040444 | 1:169,482,436 | G/A | — | likely benign |
| rs991084730 | 1:169,482,508 | A/T | — | uncertain significance |
| rs9332674 | 1:169,482,660 | T/C | — | uncertain significance |
| rs9332673 | 1:169,482,678 | G/A | — | likely benign |
| rs922113998 | 1:169,482,679 | G/A | — | uncertain significance |
| rs376103455 | 1:169,482,713 | A/G | — | conflicting classifications of pathogenicity |
| rs753366128 | 1:169,482,789 | C/T | — | uncertain significance |
| rs544753372 | 1:169,482,953 | A/C | — | uncertain significance |
| rs180742904 | 1:169,482,970 | G/T | — | conflicting classifications of pathogenicity |
| rs72708017 | 1:169,483,075 | A/G | — | conflicting classifications of pathogenicity |
| rs188490117 | 1:169,483,110 | G/A | — | uncertain significance |
| rs886045537 | 1:169,483,151 | G/C | — | uncertain significance |
| rs181328696 | 1:169,483,155 | G/T | — | uncertain significance |
| rs886045538 | 1:169,483,161 | G/A | — | uncertain significance |
| rs76510731 | 1:169,483,175 | T/A | — | likely benign |
| rs1659095114 | 1:169,483,185 | T/C | — | uncertain significance |
| rs115882472 | 1:169,483,188 | A/C | — | uncertain significance |
| rs116921763 | 1:169,483,263 | A/G | — | uncertain significance |
| rs186962725 | 1:169,483,335 | A/T | — | uncertain significance |
| rs886045539 | 1:169,483,394 | T/A | — | uncertain significance |
| rs534748300 | 1:169,483,402 | G/C | — | uncertain significance |
| rs886045540 | 1:169,483,447 | T/G | — | uncertain significance |
| rs1001647624 | 1:169,483,476 | C/T | — | uncertain significance |
| rs6027 | 1:169,483,561 | T/C | — | likely benign |
| rs1373350559 | 1:169,483,564 | C/T | — | uncertain significance |
| rs2526327316 | 1:169,483,566 | G/A | — | likely benign |
| rs561026191 | 1:169,483,575 | T/C | — | benign |
| rs777096123 | 1:169,483,581 | G/A | — | likely benign |
| rs952196842 | 1:169,483,582 | C/T | — | uncertain significance |
| rs886045541 | 1:169,483,597 | T/A | — | uncertain significance |
| rs368496361 | 1:169,483,620 | A/T | — | likely benign |
| rs142201768 | 1:169,483,626 | A/G | — | likely benign |
| rs372005449 | 1:169,483,637 | T/C | — | uncertain significance |
| rs770657381 | 1:169,483,640 | T/C | — | uncertain significance |
| rs745340966 | 1:169,483,647 | G/A | — | likely benign |
| rs2526327518 | 1:169,483,656 | G/T | — | uncertain significance |
| rs762252844 | 1:169,483,671 | T/G | — | uncertain significance |
| rs6679078 | 1:169,483,672 | T/C | — | likely benign |
| rs2526327566 | 1:169,483,675 | G/A | — | uncertain significance |
| rs200126811 | 1:169,483,690 | T/G | — | uncertain significance |
| rs2101801070 | 1:169,483,696 | A/T | — | uncertain significance |
| rs2526327597 | 1:169,483,708 | A/G | — | likely benign |
| rs375629969 | 1:169,483,709 | A/G | — | likely benign |
| rs2227243 | 1:169,483,762 | T/G | — | benign |
| rs4656685 | 1:169,483,844 | C/T | — | benign |
| rs3820060 | 1:169,484,552 | T/G | — | benign |
| rs2526329123 | 1:169,484,665 | C/A | — | likely benign |
| rs1032493902 | 1:169,484,673 | C/T | — | likely benign |
| rs780625444 | 1:169,484,694 | G/A | — | likely benign |
| rs757010994 | 1:169,484,706 | C/T | — | likely benign |
| rs138021584 | 1:169,484,721 | T/C | — | likely benign |
| rs773618429 | 1:169,484,751 | A/G | — | uncertain significance |
| rs2526329375 | 1:169,484,759 | T/C | — | uncertain significance |
| rs9332701 | 1:169,484,767 | A/G | — | likely benign |
| rs2526329417 | 1:169,484,772 | A/G | — | likely benign |
| rs1359141464 | 1:169,484,775 | G/T | — | likely benign |
| rs2526329458 | 1:169,484,793 | C/T | — | likely benign |
| rs1659138284 | 1:169,484,806 | G/A | — | uncertain significance |
| rs144486119 | 1:169,484,808 | C/T | — | likely benign |
| rs199601865 | 1:169,484,809 | G/A | — | uncertain significance |
| rs1659138648 | 1:169,484,814 | C/T | — | likely benign |
| rs1487664037 | 1:169,484,829 | T/C | — | likely benign |
| rs757104503 | 1:169,484,850 | C/T | — | conflicting classifications of pathogenicity |
| rs6004 | 1:169,484,868 | T/C | — | likely benign |
| rs1220384061 | 1:169,484,869 | G/A | — | likely benign |
| rs369788298 | 1:169,484,873 | A/G | — | likely benign |
| rs966751 | 1:169,486,141 | C/G | intron variant | — |
| rs9332667 | 1:169,486,501 | G/C | intron variant | — |
| rs377357737 | 1:169,487,637 | G/C | — | likely benign |
| rs1189466821 | 1:169,487,639 | G/C | — | likely benign |
| rs758039101 | 1:169,487,641 | A/G | — | likely benign |
Showing 100 of 959 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.