Gene: F11 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516431
rs1057516431
F11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516506
rs1057516506
F11 ; F11-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516506
rs1057516506
F11 ; F11-AS1
C 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 Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 16607084

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: rs1057516738
rs1057516738
F11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516777
rs1057516777
F11 ; F11-AS1
TG 0.700 GeneticVariation CLINVAR Compound heterozygosity for two novel mutations in a severe factor XI deficiency. 12879434

2003
dbSNP: rs1057516777
rs1057516777
F11 ; F11-AS1
TG 0.700 GeneticVariation CLINVAR Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. 18832909

2008
dbSNP: rs1057517035
rs1057517035
F11 ; F11-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517116
rs1057517116
F11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517151
rs1057517151
F11
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517171
rs1057517171
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517204
rs1057517204
F11 ; F11-AS1
A 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 Factor XI deficiency in Ashkenazi Jews in Israel. 2052060

1991
dbSNP: rs121965063
rs121965063
F11
T 0.700 CausalMutation CLINVAR Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 15026311

2004
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 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 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 Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs121965064
rs121965064
F11
0.810 GeneticVariation UNIPROT Heterozygous factor XI deficiency associated with three novel mutations. 10606881

1999