rs121909552, SERPINC1

N. diseases: 2
Disease: Antithrombin III Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
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
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
0.800 GeneticVariation CLINVAR Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. 28300866 2017