|
rs1554084031
|
|
TGA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1057516777
|
|
TG |
0.700 |
GeneticVariation |
CLINVAR |
Compound heterozygosity for two novel mutations in a severe factor XI deficiency.
|
12879434 |
2003 |
|
rs1057516777
|
|
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 |
|
rs1554081886
|
|
TA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121965068
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121965070
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Factor XI gene mutations in factor XI deficient patients of the Czech Republic.
|
18839438 |
2008 |
|
rs121965070
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121965070
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
|
16835901 |
2006 |
|
rs121965070
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Severe factor XI deficiency caused by compound heterozygosity.
|
15180874 |
2004 |
|
rs121965071
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.
|
15026311 |
2004 |
|
rs121965071
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121965071
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
|
21668437 |
2012 |
|
rs121965071
|
|
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 |
|
rs121965071
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Recurrent mutations of factor XI gene in Japanese.
|
16787881 |
2006 |
|
rs139695003
|
|
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 |
|
rs139695003
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect.
|
17229051 |
2007 |
|
rs139695003
|
|
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 |
|
rs139695003
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs1554083754
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Characterisation of blood coagulation factor XI T475I.
|
15968392 |
2005 |
|
rs1554083754
|
|
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 |
|
rs1554083754
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.
|
16835901 |
2006 |
|
rs1554083754
|
|
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 |
|
rs1554083754
|
|
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 |
|
rs281875245
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
rs281875250
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|