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.