Gene: F11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency. 26558335

2016
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. 19652879

2009
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121965064
rs121965064
F11
C 0.810 GeneticVariation CLINVAR

dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Factor XI deficiency in Ashkenazi Jews in Israel. 2052060

1991
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. 2813350

1989
dbSNP: rs121965064
rs121965064
F11
C 0.810 CausalMutation CLINVAR Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 1547342

1992
dbSNP: rs121965065
rs121965065
F11 ; F11-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121965067
rs121965067
F11
A 0.800 CausalMutation CLINVAR

dbSNP: rs121965068
rs121965068
F11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121965069
rs121965069
F11
C 0.800 CausalMutation CLINVAR

dbSNP: rs121965069
rs121965069
F11
C 0.800 GeneticVariation CLINVAR Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 16079124

2005
dbSNP: rs121965069
rs121965069
F11
C 0.800 GeneticVariation CLINVAR Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 11895778

2002
dbSNP: rs121965069
rs121965069
F11
C 0.800 GeneticVariation CLINVAR Thrombin generation in patients with factor XI deficiency and clinical bleeding risk. 20398070

2010
dbSNP: rs121965070
rs121965070
F11
T 0.800 GeneticVariation CLINVAR Factor XI gene mutations in factor XI deficient patients of the Czech Republic. 18839438

2008
dbSNP: rs121965070
rs121965070
F11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121965070
rs121965070
F11
T 0.800 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs121965070
rs121965070
F11
T 0.800 GeneticVariation CLINVAR Severe factor XI deficiency caused by compound heterozygosity. 15180874

2004
dbSNP: rs121965071
rs121965071
F11
T 0.800 GeneticVariation CLINVAR Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
dbSNP: rs121965071
rs121965071
F11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121965071
rs121965071
F11
T 0.800 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012
dbSNP: rs121965071
rs121965071
F11
T 0.800 GeneticVariation CLINVAR Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency. 19652879

2009
dbSNP: rs121965071
rs121965071
F11
T 0.800 GeneticVariation CLINVAR Recurrent mutations of factor XI gene in Japanese. 16787881

2006