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 Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. 6582486 1984
Antithrombin III Deficiency
CUI: C0272375
Disease: Antithrombin III Deficiency
0.800 CausalMutation CLINVAR