Gene: F11-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139695003
rs139695003
F11 ; F11-AS1
T 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 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
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: 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: rs139695003
rs139695003
F11 ; F11-AS1
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: rs1554083754
rs1554083754
F11 ; F11-AS1
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: rs1554083754
rs1554083754
F11 ; F11-AS1
T 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 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 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 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: rs1554083754
rs1554083754
F11 ; F11-AS1
T 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: rs139695003
rs139695003
F11 ; F11-AS1
T 0.800 GeneticVariation CLINVAR A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. 17229051

2007
dbSNP: rs1554083754
rs1554083754
F11 ; F11-AS1
T 0.800 GeneticVariation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs139695003
rs139695003
F11 ; F11-AS1
T 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: rs1554083754
rs1554083754
F11 ; F11-AS1
T 0.800 GeneticVariation CLINVAR Characterisation of blood coagulation factor XI T475I. 15968392

2005
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 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: rs121965065
rs121965065
F11 ; F11-AS1
G 0.800 CausalMutation CLINVAR

dbSNP: rs121965072
rs121965072
F11 ; F11-AS1
C 0.800 CausalMutation CLINVAR

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

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

dbSNP: rs281875251
rs281875251
F11 ; F11-AS1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486

2016
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289

2007