F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Hereditary factor II deficiency disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143498218
rs143498218
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		0.010 GeneticVariation BEFREE However, prothrombin antigen/activity ratios indicate a dysprothrombinemia as well, most likely due to the inability of R457Q prothrombin to activate fully to thrombin. 14629473 2003