F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: Hereditary Factor XI Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201007090
rs201007090
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		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
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		A 0.700 GeneticVariation CLINVAR Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect. 21668437 2012
dbSNP: rs201007090
rs201007090
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		A 0.700 GeneticVariation CLINVAR Characterization of the genetic basis of FXI deficiency in two Turkish patients. 20015217 2010
dbSNP: rs201007090
rs201007090
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		A 0.700 GeneticVariation CLINVAR A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. 11122101 2000
dbSNP: rs201007090
rs201007090
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		A 0.700 CausalMutation CLINVAR