rs1276352833, FGA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.010 GeneticVariation BEFREE Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia. 26581183 2016
Dysfibrinogenemia
CUI: C1260903
Disease: Dysfibrinogenemia
0.010 GeneticVariation BEFREE We found a mutation that consists of a R458C substitution on the fibrinogen alpha chain (FGA) gene confirmed in 13 new familial subjects that causes a rare subtype of dysfibrinogenemia characterized by venous thromboembolic events. 26581183 2016