Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2013
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 20027064

2010
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819

2006
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		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: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate. 11713457

2001
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT The molecular basis of antithrombin deficiency in Belgian and Dutch families. 9759613

1998
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		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: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency. 9157604

1997
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp) 7989582

1994
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. 7959685

1994
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. 7994035

1994
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. 8274732

1994
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. 8443391

1993
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		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: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F. 1555650

1992
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Site-directed mutagenesis of alanine-382 of human antithrombin III. 2013320

1991
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. 2365065

1990
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin Chicago, amino acid substitution of arginine 393 to histidine. 2781509

1989
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site. 3191114

1988
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow. 3162733

1988
dbSNP: rs121909546
rs121909546
SERPINC1 ; ZBTB37
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. 3080419

1986
dbSNP: rs121909547
rs121909547
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. 23910795

2013
dbSNP: rs121909547
rs121909547
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 20027064

2010
dbSNP: rs121909547
rs121909547
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		0.800 GeneticVariation UNIPROT Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. 16908819

2006
dbSNP: rs121909547
rs121909547
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency 		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