Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121965066
rs121965066
F11
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

dbSNP: rs1220869989
rs1220869989
F11
C 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

dbSNP: rs1340928778
rs1340928778
F11
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

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

2019

dbSNP: rs533335580
rs533335580
F11
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

dbSNP: rs542967227
rs542967227
A 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

dbSNP: rs757530565
rs757530565
A 0.700 CausalMutation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

dbSNP: rs757817254
rs757817254
F11
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019

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: rs1439195599
rs1439195599
F11
T 0.700 GeneticVariation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486

2016

dbSNP: rs538083600
rs538083600
F11
T 0.700 GeneticVariation CLINVAR Clinical and molecular epidemiology of factor XI deficiency in India. 27710856

2016

dbSNP: rs1439195599
rs1439195599
F11
T 0.700 GeneticVariation CLINVAR Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations. 25681615

2015

dbSNP: rs1554081288
rs1554081288
F11
T 0.700 GeneticVariation CLINVAR The spectrum of factor XI deficiency in Italy. 24112640

2014

dbSNP: rs201007090
rs201007090
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: rs747702749
rs747702749
F11
T 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: rs768409400
rs768409400
F11
T 0.700 GeneticVariation CLINVAR The spectrum of factor XI deficiency in Italy. 24112640

2014

dbSNP: rs779802284
rs779802284
F11
A 0.700 CausalMutation CLINVAR Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 25074526

2014

dbSNP: rs779802284
rs779802284
F11
A 0.700 GeneticVariation CLINVAR Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 25074526

2014

dbSNP: rs786204722
rs786204722
F11
T 0.700 GeneticVariation CLINVAR The spectrum of factor XI deficiency in Italy. 24112640

2014

dbSNP: rs1459304265
rs1459304265
F11
A 0.700 GeneticVariation CLINVAR Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation. 23305485

2013

dbSNP: rs1554083753
rs1554083753
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
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
A 0.700 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012

dbSNP: rs747702749
rs747702749
F11
T 0.700 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437

2012