Tag

Thrombophilia

48 genetic variants with this tag.

RSID	Gene	Description	Category
rs1010	VAMP8 VAMP8 3'UTR Variant	Common 3'UTR variant in VAMP8 associated with modestly elevated myocardial in...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Thrombophilia	Established
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Thrombophilia	Strong
rs121909548	SERPINC1 Cambridge II (A384S)	Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed th...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Thrombophilia	Established
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs121918475	PROS1 Q279X	Pathogenic nonsense variant in protein S that eliminates the anticoagulant co...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs1799963	F2 G20210A	Second most common inherited thrombophilia; the A allele raises prothrombin l...	Coagulation & Clotting Factors	Thrombophilia	Established
rs121918476	PROS1 Arg561Trp	Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protei...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs1800595	F5 HR2 haplotype (H1299R / R2)	Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagu...	Coagulation & Clotting Factors	Thrombophilia	Moderate
rs1800386	VWF Tyr1584Cys	Low-penetrance variant in von Willebrand factor that causes enhanced protein ...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs1800787	FGB -148C>T	Upstream promoter variant in fibrinogen beta chain that elevates circulating ...	Coagulation & Clotting Factors	Thrombophilia	Strong
rs1800790	FGB -455G>A	Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans...	Coagulation & Clotting Factors	Thrombophilia	Strong
rs216311	VWF Thr1381Ala	Missense variant in VWF at codon 1381 (Thr→Ala); the Ala allele (C on plus st...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs2066865	FGG 10034C>T	3' region variant in the fibrinogen gamma chain gene that shifts the gamma/ga...	Coagulation & Clotting Factors	Thrombophilia	Strong
rs2288904	SLC44A2 R154Q	Missense variant that impairs platelet-neutrophil binding; carriers of the Q1...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs2317676	ITGB3	3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that dis...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs422187	F9 Intronic F9 variant	Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium...	Coagulation & Clotting Factors	Thrombophilia	Moderate
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Thrombophilia	Moderate
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs5985	F13A1 Val34Leu	Missense variant in Factor XIII A subunit; the Leu34 allele accelerates throm...	Coagulation & Clotting Factors	Thrombophilia	Strong
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs6048	F9 Factor IX Malmö	Common missense variant in the X-linked coagulation factor IX gene; the G all...	Coagulation & Clotting Factors	Thrombophilia	Moderate
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs6050	FGA Thr312Ala	Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine...	Coagulation & Clotting Factors	Thrombophilia	Strong
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs5174	LRP8 LRP8 R952Q	Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...	Atherogenic Lipoproteins	Thrombophilia	Moderate
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain producing a substantially...	Coagulation & Clotting Factors	Thrombophilia	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	Thrombophilia	Strong
rs387906674	PROS1 R355C	Rare pathogenic missense variant in protein S causing hereditary type III pro...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs387906675	PROS1 Y234C	Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Coronary Artery Disease & Atherosclerosis	Thrombophilia	Strong
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Thrombophilia	Emerging
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Moderate
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs1801133	MTHFR C677T	Key enzyme for converting folate to its active methylfolate form	Methylation & Detox	Thrombophilia	Established
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Established
rs867186	PROCR S219G	Missense variant in the endothelial protein C receptor gene that increases EP...	Von Willebrand & Anticoagulant Proteins	Thrombophilia	Strong
rs78707713	TSPAN15	Intronic TSPAN15 variant; the C allele is associated with a 31% increased ris...	Coronary Artery Disease & Atherosclerosis	Thrombophilia	Strong
rs73015965	PLG Lys38Glu (K38E)	Missense variant in plasminogen that reduces fibrinolytic activity and impair...	Innate Immunity & Infection Defense	Thrombophilia	Strong
rs6025	F5 Leiden	Factor V Leiden - blood clotting disorder affecting thrombosis risk	Pharmacogenomics	Thrombophilia	Established