rs757240974, F2

N. diseases: 4
Disease: Factor X Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Factor X Deficiency
CUI: C0015519
Disease: Factor X Deficiency
0.010 GeneticVariation BEFREE Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain. 17083512 2006