Gene: F11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965067
rs121965067
F11
A 0.800 CausalMutation CLINVAR

dbSNP: rs281875250
rs281875250
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR

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: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Factor XI deficiency in Southern Iran: identification of a novel missense mutation. 18758779

2009
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 16079124

2005
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
A 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: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. 15953011

2005
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families. 20523169

2009
dbSNP: rs281875275
rs281875275
F11 ; F11-AS1
A 0.800 GeneticVariation CLINVAR Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. 21718436

2011
dbSNP: rs28934609
rs28934609
F11 ; F11-AS1
A 0.800 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
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: rs1057516616
rs1057516616
F11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516738
rs1057516738
F11
A 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: rs121965066
rs121965066
F11
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121965066
rs121965066
F11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1316806485
rs1316806485
F11
A 0.700 GeneticVariation CLINVAR