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: rs752907087
rs752907087
Entrez Id: 2160
Gene Symbol: F11
F11
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.700 GeneticVariation CLINVAR Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. 14717969 2004