Gene: F11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875257
rs281875257
F11
A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs281875272
rs281875272
F11
G 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs28934608
rs28934608
F11
T 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs28934608
rs28934608
F11
T 0.800 CausalMutation CLINVAR

dbSNP: rs768474112
rs768474112
F11
A 0.800 GeneticVariation CLINVAR Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. 18515884

2008
dbSNP: rs768474112
rs768474112
F11
A 0.800 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs768474112
rs768474112
F11
A 0.800 GeneticVariation CLINVAR Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. 18327400

2008
dbSNP: rs768474112
rs768474112
F11
A 0.800 GeneticVariation CLINVAR Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. 18446632

2008
dbSNP: rs768474112
rs768474112
F11
A 0.800 GeneticVariation CLINVAR Mutations in disguise. 21824284

2011
dbSNP: rs753909969
rs753909969
F11
A 0.710 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1057516431
rs1057516431
F11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516616
rs1057516616
F11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516695
rs1057516695
F11
G 0.700 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs1057516695
rs1057516695
F11
G 0.700 GeneticVariation CLINVAR Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. 12716376

2003
dbSNP: rs1057516695
rs1057516695
F11
G 0.700 GeneticVariation CLINVAR Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 16607084

2006
dbSNP: rs1057516738
rs1057516738
F11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517116
rs1057517116
F11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517151
rs1057517151
F11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517364
rs1057517364
F11
A 0.700 CausalMutation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486

2016
dbSNP: rs1057517446
rs1057517446
F11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121965063
rs121965063
F11
T 0.700 CausalMutation CLINVAR A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. 15140127

2004
dbSNP: rs121965063
rs121965063
F11
T 0.700 CausalMutation CLINVAR Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX. 10593931

1999
dbSNP: rs121965063
rs121965063
F11
T 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121965063
rs121965063
F11
T 0.700 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: rs121965063
rs121965063
F11
T 0.700 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006