Tag

Blood Clotting

75 genetic variants with this tag.

RSID	Gene	Description	Category
rs10033464	KCNN3 KCNN3 AF susceptibility variant	Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk...	Arrhythmia & Heart Rhythm	Blood Clotting	Strong
rs1010	VAMP8 VAMP8 3'UTR Variant	Common 3'UTR variant in VAMP8 that disrupts a microRNA-96 binding site, eleva...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs1057516616	F11 c.25_28del (p.His9fs)	Frameshift deletion in coagulation factor XI causing complete loss of the FXI...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs1057517151	F11 c.291del (p.Tyr98fs)	Frameshift deletion in coagulation factor XI causing likely-pathogenic partia...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs11220465	ST3GAL4 ST3GAL4 VWF/FVIII Modifier	Common intronic variant in the ST3GAL4 sialyltransferase gene associated with...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Moderate
rs121909547	SERPINC1 Arg79Cys	Pathogenic missense variant in the antithrombin III heparin-binding domain; h...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs121909548	SERPINC1 Cambridge II (A384S)	Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed th...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Blood Clotting	Established
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Blood Clotting	Established
rs17175830	ZFPM1 ZFPM1 intronic variant	Intronic variant in ZFPM1 (FOG1), the master transcriptional co-regulator of ...	Arrhythmia & Heart Rhythm	Blood Clotting	Strong
rs121909569	SERPINC1 Ser148Pro	Likely pathogenic missense variant in antithrombin III; the G allele converts...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs13412535	SERPINE2	Intronic regulatory variant in SERPINE2 that modulates expression of Protease...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs121918473	PROS1 Asn258Ser	Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; hete...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs1799889	SERPINE1 PAI-1 4G/5G Promoter	Promoter insertion/deletion polymorphism that controls PAI-1 (plasminogen act...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs121918474	PROS1 K196E (Lys196Glu)	Pathogenic missense variant in protein S causing autosomal dominant thromboph...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs1799963	F2 G20210A	Second most common inherited thrombophilia; the A allele raises prothrombin l...	Coagulation & Clotting Factors	Blood Clotting	Established
rs121918475	PROS1 Q279X	Pathogenic nonsense variant in protein S that eliminates the anticoagulant co...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs1800595	F5 HR2 haplotype (H1299R / R2)	Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagu...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs1801690	APOH Trp316Ser	Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholip...	Atherogenic Lipoproteins	Blood Clotting	Moderate
rs28634651	ZFPM1	Common intronic variant in the FOG1 megakaryocyte transcription factor gene t...	Arrhythmia & Heart Rhythm	Blood Clotting	Moderate
rs121918476	PROS1 Arg561Trp	Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protei...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs1800787	FGB -148C>T	Upstream promoter variant in fibrinogen beta chain that elevates circulating ...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs11967262	VEGFA	Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein r...	Vascular Inflammation & Remodeling	Blood Clotting	Moderate
rs1800380	VWF Arg960= (synonymous)	Common synonymous variant in the VWF D2/D' domain region; the T allele is par...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs1800788	FGB -854G>A	Upstream promoter variant in fibrinogen beta chain that increases IL-6-driven...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs1800386	VWF Tyr1584Cys	Low-penetrance variant in von Willebrand factor that causes enhanced protein ...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs1800789	FGB -249G>A	Upstream promoter variant in fibrinogen beta chain that is associated with lo...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs1800790	FGB -455G>A	Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs216311	VWF Thr1381Ala	Missense variant in VWF at codon 1381 (Thr→Ala); the Ala allele (C on plus st...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs1801020	F12 46C>T	5' UTR variant that reduces Factor XII translation efficiency, lowering plasm...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs2288904	SLC44A2 R154Q	Missense variant that impairs platelet-neutrophil binding and blocks flow-dep...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs201007090	F11 Trp519Stop	Nonsense mutation in coagulation factor XI creating a premature stop codon, c...	Coagulation & Clotting Factors	Blood Clotting	Established
rs2301612	ADAMTS13 Q448E	Common ADAMTS13 missense variant substituting glutamate for glutamine at posi...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs201227603	HPS3 HPS3 Splice Donor Variant	Splice donor variant in HPS3 that disrupts exon 5 inclusion, causing Hermansk...	Innate Immunity & Infection Defense	Blood Clotting	Established
rs2066865	FGG 10034C>T	3' region variant in the fibrinogen gamma chain gene that shifts the gamma/ga...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs2317676	ITGB3	3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that dis...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs267607326	VWF Y1146C	Pathogenic missense variant in the VWF D3 domain causing von Willebrand disea...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs2731672	F12	Regulatory tag variant in the Factor XII locus associated with plasma FXII ac...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs4220	FGB Arg448Lys (R448K)	Missense variant in the fibrinogen beta chain that elevates circulating fibri...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs422187	F9 Intronic F9 variant	Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs28647808	ADAMTS13 Pro618Ala	Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs4253238	KLKB1 KLKB1 intronic variant	Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic ac...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs5985	F13A1 Val34Leu	Missense variant in Factor XIII A subunit; the Leu34 allele accelerates throm...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs6048	F9 Factor IX Malmö	Common missense variant in the X-linked coagulation factor IX gene; the G all...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs369504169	PROC p.Arg42His (c.125G>A)	Rare missense variant in the PROC gene encoding protein C; the A allele subst...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs6050	FGA Thr312Ala	Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine...	Coagulation & Clotting Factors	Blood Clotting	Strong
rs387906674	PROS1 R355C	Rare pathogenic missense variant in protein S causing hereditary type III pro...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain that disrupts fibrin poly...	Coagulation & Clotting Factors	Blood Clotting	Moderate
rs387906675	PROS1 Y234C	Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs30021	SNX24 VEGFA Vascular Growth Co-variant	Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endotheli...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Emerging
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61750579	VWF V1607D	Pathogenic missense variant in von Willebrand factor A2 domain adjacent to th...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs35257264	ST3GAL4	Intronic variant near ST3GAL4 that modulates VWF and Factor VIII sialylation,...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Strong
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61750591	VWF c.4944del	A frameshift deletion in VWF that truncates von Willebrand factor from positi...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61750612	VWF R1853X	Nonsense mutation creating a premature stop codon at position 1853 of von Wil...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs61751290	VWF c.7437+1G>T	Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleo...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Emerging
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Moderate
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs57035593	TC2N	Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated wit...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Strong
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Established
rs867186	PROCR S219G	Missense variant in the endothelial protein C receptor gene that increases EP...	Von Willebrand & Anticoagulant Proteins	Blood Clotting	Strong
rs6797312	SERPINI1	Intronic variant in the neuroserpin gene; the A allele has been associated wi...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Emerging
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Blood Clotting	Strong
rs78707713	TSPAN15	Intronic TSPAN15 variant that modulates ADAM10-mediated shedding of GPVI, the...	Coronary Artery Disease & Atherosclerosis	Blood Clotting	Strong