SERPINE1

serpin family E member 1

Summary

This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]

Known Variants107 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2227631	7:100,769,538	A/G	regulatory region variant	—
rs1799768	7:100,769,706	—	—	—
rs1799889	7:100,769,711	A/G	—	—
rs1051051547	7:100,770,418	G/A	—	uncertain significance
rs886061835	7:100,770,426	G/A	—	uncertain significance
rs556803416	7:100,770,434	C/T	—	uncertain significance
rs760811030	7:100,770,473	C/T	—	uncertain significance
rs36228265	7:100,770,507	G/C	—	uncertain significance
rs6092	7:100,771,717	G/A	missense variant	uncertain significance
rs6090	7:100,771,723	G/A	missense variant	benign
rs2227647	7:100,771,748	A/C	—	likely benign
rs1163437425	7:100,771,753	C/A	—	uncertain significance
rs780207027	7:100,771,788	C/T	—	likely benign
rs1412176159	7:100,771,823	C/G	—	uncertain significance
rs761039040	7:100,771,831	C/T	—	uncertain significance
rs758271488	7:100,771,865	C/T	—	uncertain significance
rs374379570	7:100,771,891	A/G	—	uncertain significance
rs2486048023	7:100,771,921	G/A	—	uncertain significance
rs1308315286	7:100,771,927	A/G	—	uncertain significance
rs2227657	7:100,773,459	T/C	—	benign
rs6091	7:100,773,787	G/A	—	likely benign
rs2534961847	7:100,773,806	C/A	—	uncertain significance
rs140708600	7:100,773,829	G/A	—	uncertain significance
rs1325311758	7:100,773,833	C/T	—	uncertain significance
rs377193732	7:100,773,851	C/T	—	uncertain significance
rs200318916	7:100,773,886	G/C	—	conflicting classifications of pathogenicity
rs375620822	7:100,773,899	T/C	—	uncertain significance
rs535214895	7:100,773,927	A/T	—	uncertain significance
rs2227667	7:100,774,749	A/G	intron variant	—
rs2227668	7:100,774,855	A/G	—	benign
rs2854233	7:100,774,870	A/C	—	benign
rs200926782	7:100,775,159	T/C	—	uncertain significance
rs376407844	7:100,775,187	C/T	—	uncertain significance
rs201293550	7:100,775,205	G/C	—	benign
rs2227669	7:100,775,276	G/A	—	uncertain significance
rs2227670	7:100,775,298	C/T	—	benign
rs766181190	7:100,775,299	G/A	—	uncertain significance
rs147436426	7:100,775,300	G/A	—	uncertain significance
rs147003064	7:100,775,345	A/G	—	likely benign
rs1796362492	7:100,775,360	A/G	—	uncertain significance
rs2227672	7:100,775,686	G/A	—	—
rs2854236	7:100,776,735	T/C	—	benign
rs2227684	7:100,776,931	G/A	regulatory region variant	benign
rs745829911	7:100,776,994	A/G	—	uncertain significance
rs61749911	7:100,777,076	G/A	—	uncertain significance
rs199561546	7:100,777,091	C/A	—	likely benign
rs750289183	7:100,777,120	T/G	—	uncertain significance
rs116128114	7:100,777,186	C/T	—	benign
rs2070682	7:100,777,267	T/C	—	benign
rs1796546340	7:100,778,809	C/T	—	uncertain significance
rs762047141	7:100,778,832	C/T	—	likely benign
rs192692662	7:100,778,864	C/T	—	uncertain significance
rs1796549628	7:100,778,870	T/C	—	uncertain significance
rs201351580	7:100,779,015	C/T	—	uncertain significance
rs2227692	7:100,779,244	C/T	regulatory region variant	—
rs2070683	7:100,779,941	A/G	—	—
rs2227694	7:100,780,176	A/G	regulatory region variant	benign
rs1356412166	7:100,780,271	T/C	—	uncertain significance
rs762527672	7:100,780,273	C/T	—	likely benign
rs2534995465	7:100,780,354	A/T	—	uncertain significance
rs995243543	7:100,780,683	C/G	—	uncertain significance
rs2534997188	7:100,780,684	A/C	—	uncertain significance
rs41334349	7:100,780,903	T/C	—	likely benign
rs747135553	7:100,780,930	C/T	—	uncertain significance
rs1333856024	7:100,780,959	C/T	—	uncertain significance
rs551400163	7:100,780,998	C/T	—	uncertain significance
rs534542817	7:100,781,017	T/G	—	uncertain significance
rs11178	7:100,781,084	T/C	regulatory region variant	benign
rs148235544	7:100,781,148	T/C	—	uncertain significance
rs58167134	7:100,781,163	T/C	—	likely benign
rs146323865	7:100,781,178	C/T	—	uncertain significance
rs1334787082	7:100,781,179	G/A	—	uncertain significance
rs540551187	7:100,781,201	A/C	—	uncertain significance
rs886061836	7:100,781,231	C/A	—	uncertain significance
rs1026075364	7:100,781,256	C/T	—	uncertain significance
rs1035342388	7:100,781,308	G/T	—	uncertain significance
rs186133446	7:100,781,340	T/A	—	uncertain significance
rs138333231	7:100,781,384	T/C	—	likely benign
rs527814575	7:100,781,407	T/C	—	uncertain significance
rs1050766	7:100,781,408	T/C	—	benign
rs7241	7:100,781,413	C/T	—	benign
rs7242	7:100,781,445	T/G	regulatory region variant	benign
rs374321581	7:100,781,475	C/A	—	benign
rs886061837	7:100,781,582	C/T	—	uncertain significance
rs531982874	7:100,781,586	C/T	—	uncertain significance
rs550508703	7:100,781,614	C/T	—	uncertain significance
rs1050813	7:100,781,615	A/G	—	benign
rs536144892	7:100,781,673	C/T	—	likely benign
rs201434513	7:100,781,729	T/C	—	uncertain significance
rs886061838	7:100,781,870	G/C	—	uncertain significance
rs886061839	7:100,781,878	T/C	—	uncertain significance
rs2227714	7:100,781,909	T/C	—	benign
rs886061840	7:100,781,915	G/C	—	uncertain significance
rs778538888	7:100,781,989	G/C	—	uncertain significance
rs372017980	7:100,782,018	C/T	—	uncertain significance
rs903749815	7:100,782,019	G/A	—	uncertain significance
rs2227700	7:100,782,081	T/C	—	benign
rs71557295	7:100,782,111	G/A	—	uncertain significance
rs1328400454	7:100,782,160	C/A	—	uncertain significance
rs886061841	7:100,782,166	C/A	—	uncertain significance

Showing 100 of 107 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.