Gene: F11-AS1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs145906668
rs145906668
F11 ; F11-AS1
T 0.710 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289

2007
dbSNP: rs1057516506
rs1057516506
F11 ; F11-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516506
rs1057516506
F11 ; F11-AS1
C 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: rs1057517171
rs1057517171
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517204
rs1057517204
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554083727
rs1554083727
F11 ; F11-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554083734
rs1554083734
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554083736
rs1554083736
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR

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: rs1554083758
rs1554083758
F11 ; F11-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554084031
rs1554084031
F11 ; F11-AS1
TGA 0.700 GeneticVariation CLINVAR

dbSNP: rs201007090
rs201007090
F11 ; F11-AS1
A 0.700 GeneticVariation CLINVAR A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. 11122101

2000
dbSNP: rs201007090
rs201007090
F11 ; F11-AS1
A 0.700 CausalMutation CLINVAR

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
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: 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: 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: rs373297713
rs373297713
F11 ; F11-AS1
A 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: 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: rs375422404
rs375422404
F11 ; F11-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs375422404
rs375422404
F11 ; F11-AS1
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019