Gene: F11 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204724
rs786204724
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). 22159456

2012
dbSNP: rs786204722
rs786204722
F11
T 0.700 GeneticVariation CLINVAR Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 11895778

2002
dbSNP: rs786204722
rs786204722
F11
T 0.700 GeneticVariation CLINVAR The spectrum of factor XI deficiency in Italy. 24112640

2014
dbSNP: rs786204449
rs786204449
F11
C 0.700 GeneticVariation CLINVAR Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 16607084

2006
dbSNP: rs786204449
rs786204449
F11
C 0.700 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs786204429
rs786204429
F11
T 0.700 GeneticVariation CLINVAR Characterization of seven novel mutations causing factor XI deficiency. 18024374

2007
dbSNP: rs786204429
rs786204429
F11
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. 11127865

2000
dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR A classification system for cross-reactive material-negative factor XI deficiency. 15728123

2005
dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR Characterization of seven novel mutations causing factor XI deficiency. 18024374

2007
dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 25074526

2014
dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR A classification system for cross-reactive material-negative factor XI deficiency. 15728123

2005
dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 25074526

2014
dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. 15634276

2005
dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR Characterization of seven novel mutations causing factor XI deficiency. 18024374

2007
dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. 15634276

2005
dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs779802284
rs779802284
F11
A 0.700 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: rs773905328
rs773905328
F11
A 0.700 CausalMutation CLINVAR

dbSNP: rs773905328
rs773905328
F11
A 0.700 GeneticVariation CLINVAR Two factor XI mutations in a Chinese family with factor XI deficiency. 14508802

2003
dbSNP: rs771896253
rs771896253
F11
T 0.700 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: rs771896253
rs771896253
F11
T 0.700 GeneticVariation CLINVAR Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. 21192253

2011
dbSNP: rs771896253
rs771896253
F11
T 0.700 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289

2007
dbSNP: rs771896253
rs771896253
F11
T 0.700 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs770505620
rs770505620
F11
T 0.700 CausalMutation CLINVAR