Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR SERPINC1 gene mutations in antithrombin deficiency. 28317092

2017
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. 26748602

2016
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. 27322195

2016
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Discordant diagnoses obtained by different approaches in antithrombin mutation analysis. 24956267

2014
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2013
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Use of recombinant human antithrombin concentrate in pregnancy. 24082793

2013
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2013
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819

2006
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. 15164384

2004
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 11713457

2001
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT The molecular basis of antithrombin deficiency in Belgian and Dutch families. 9759613

1998
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604

1997
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 9031473

1997
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. 8274732

1994
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp) 7989582

1994
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. 7959685

1994
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. 7994035

1994
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. 8443391

1993
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650

1992
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. 1547341

1992
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Site-directed mutagenesis of alanine-382 of human antithrombin III. 2013320

1991
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. 2365065

1990
dbSNP: rs121909551
rs121909551
SERPINC1
A 0.800 CausalMutation CLINVAR Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation. 2794060

1989
dbSNP: rs121909551
rs121909551
SERPINC1
0.800 GeneticVariation UNIPROT Antithrombin Chicago, amino acid substitution of arginine 393 to histidine. 2781509

1989