rs121918474, PROS1

N. diseases: 11
Disease: Thrombophilia, hereditary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombophilia, hereditary
CUI: C2584620
Disease: Thrombophilia, hereditary
0.010 GeneticVariation BEFREE : Protein S Tokushima (p.Lys196Glu) and two protein C gene variants (p.Arg189Trp, p.Lys193del) are hereditary thrombophilia in Japanese and Chinese populations, respectively; however, their diagnosis by plasma analyses is difficult because of the type II deficiency phenotype. 31490209 2019