Source: INFERRED ×
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: 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: 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: 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