Gene: F11-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 15749683

2005
dbSNP: rs542967227
rs542967227
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 16079124

2005
dbSNP: rs542967227
rs542967227
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). 15842381

2005
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: rs373297713
rs373297713
F11 ; F11-AS1
A 0.700 CausalMutation CLINVAR Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 16835901

2006
dbSNP: rs542967227
rs542967227
F11 ; F11-AS1
A 0.700 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 A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. 17229051

2007
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289

2007
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: 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: 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: rs542967227
rs542967227
F11 ; F11-AS1
A 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: rs201007090
rs201007090
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Characterization of the genetic basis of FXI deficiency in two Turkish patients. 20015217

2010
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: rs201007090
rs201007090
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012
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: rs1554083753
rs1554083753
F11 ; F11-AS1
GA 0.700 GeneticVariation CLINVAR Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation. 23305485

2013
dbSNP: rs373297713
rs373297713
F11 ; F11-AS1
A 0.700 CausalMutation CLINVAR Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. 23332144

2013
dbSNP: rs201007090
rs201007090
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency. 24982842

2014