SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909547
rs121909547
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121909551
rs121909551
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121909567
rs121909567
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121909551
rs121909551
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 CausalMutation CLINVAR SERPINC1 gene mutations in antithrombin deficiency. 28317092 2017
dbSNP: rs121909552
rs121909552
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		T 0.800 GeneticVariation CLINVAR Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. 28300866 2017
dbSNP: rs121909551
rs121909551
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		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
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 CausalMutation CLINVAR Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site. 27322195 2016
dbSNP: rs121909552
rs121909552
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		T 0.800 GeneticVariation 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
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 CausalMutation CLINVAR Discordant diagnoses obtained by different approaches in antithrombin mutation analysis. 24956267 2014
dbSNP: rs121909552
rs121909552
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		T 0.800 GeneticVariation CLINVAR Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 24162787 2014
dbSNP: rs121909546
rs121909546
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
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: rs121909548
rs121909548
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909549
rs121909549
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909550
rs121909550
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909551
rs121909551
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		A 0.800 CausalMutation CLINVAR Use of recombinant human antithrombin concentrate in pregnancy. 24082793 2013
dbSNP: rs121909551
rs121909551
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
Antithrombin III Deficiency 		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
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
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: rs121909552
rs121909552
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
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: rs121909554
rs121909554
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909555
rs121909555
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909557
rs121909557
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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: rs121909558
rs121909558
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
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: rs121909563
rs121909563
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease:
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: rs121909564
rs121909564
Entrez Id: 462;84614
Gene Symbol: SERPINC1;ZBTB37
SERPINC1;ZBTB37
CUI: C0272375
Disease:
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