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rs10455872
|
LPA
|
Intronic variant strongly associated with elevated lipoprotein(a) levels and ...
|
Atherogenic Lipoproteins
|
|
Established
|
|
rs1057516616
|
F11
c.25_28del (p.His9fs)
|
Frameshift deletion in coagulation factor XI causing complete loss of the FXI...
|
Coagulation & Clotting Factors
|
|
Strong
|
|
rs121909547
|
SERPINC1
Arg79Cys
|
Pathogenic missense variant in the antithrombin III heparin-binding domain; h...
|
Von Willebrand & Anticoagulant Proteins
|
|
Established
|
|
rs121909548
|
SERPINC1
Cambridge II (A384S)
|
Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed th...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
rs121909567
|
SERPINC1
Budapest 3 (Leu131Phe)
|
Pathogenic missense in antithrombin III; the A allele causes type II heparin-...
|
Von Willebrand & Anticoagulant Proteins
|
|
Established
|
|
rs121909569
|
SERPINC1
Ser148Pro
|
Likely pathogenic missense variant in antithrombin III; the G allele converts...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
rs121918473
|
PROS1
Asn258Ser
|
Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; hete...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
rs121918474
|
PROS1
K196E (Lys196Glu)
|
Pathogenic missense variant in protein S causing autosomal dominant thromboph...
|
Von Willebrand & Anticoagulant Proteins
|
|
Established
|
|
rs1799963
|
F2
G20210A
|
Second most common inherited thrombophilia; the A allele raises prothrombin l...
|
Coagulation & Clotting Factors
|
|
Established
|
|
rs121918475
|
PROS1
Q279X
|
Pathogenic nonsense variant in protein S that eliminates the anticoagulant co...
|
Von Willebrand & Anticoagulant Proteins
|
|
Established
|
|
rs1800595
|
F5
HR2 haplotype (H1299R / R2)
|
Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagu...
|
Coagulation & Clotting Factors
|
|
Moderate
|
|
rs1801690
|
APOH
Trp316Ser
|
Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholip...
|
Atherogenic Lipoproteins
|
|
Moderate
|
|
rs121918476
|
PROS1
Arg561Trp
|
Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protei...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
rs1142345
|
TPMT
*3C
|
No-function variant causing deficient thiopurine methylation; most common TPM...
|
Pharmacogenomics
|
|
Established
|
|
rs3798220
|
LPA
Ile4399Met (I4399M)
|
Missense variant in the protease-like domain of apolipoprotein(a) causing mar...
|
Atherogenic Lipoproteins
|
|
Strong
|
|
rs2288904
|
SLC44A2
R154Q
|
Missense variant that impairs platelet-neutrophil binding and blocks flow-dep...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
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
|
|
Strong
|
|
rs387906674
|
PROS1
R355C
|
Rare pathogenic missense variant in protein S causing hereditary type III pro...
|
Von Willebrand & Anticoagulant Proteins
|
|
Strong
|
|
rs387906675
|
PROS1
Y234C
|
Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...
|
Von Willebrand & Anticoagulant Proteins
|
|
Established
|
|
rs1800460
|
TPMT
*3B
|
Decreased-function variant causing reduced thiopurine methylation; pairs with...
|
Pharmacogenomics
|
|
Established
|
|
rs5186
|
AGTR1
A1166C
|
3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...
|
Blood Pressure & Hypertension
|
|
Moderate
|
|
rs1800462
|
TPMT
*2
|
The original TPMT deficiency allele — a no-function star allele causing ~100-...
|
Pharmacogenomics
|
|
Established
|
|
rs505922
|
ABO
ABO blood group tag SNP
|
Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...
|
Coronary Artery Disease & Atherosclerosis
|
|
Established
|
|
rs2108622
|
CYP4F2
V433M (*3)
|
Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...
|
Pharmacogenomics
|
|
Established
|
|
rs4244285
|
CYP2C19
*2
|
No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepress...
|
Pharmacogenomics
|
|
Established
|
|
rs4986893
|
CYP2C19
*3
|
No-function CYP2C19 stop-gain variant — second most common loss-of-function a...
|
Pharmacogenomics
|
|
Established
|
|
rs6025
|
F5
Leiden
|
Factor V Leiden - blood clotting disorder affecting thrombosis risk
|
Pharmacogenomics
|
|
Established
|
|
rs9923231
|
VKORC1
-1639G>A
|
Warfarin sensitivity - determines initial dosing
|
Pharmacogenomics
|
|
Established
|