rs17292650, MPL

N. diseases: 3
Disease: Thrombocytosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
0.020 GeneticVariation BEFREE The MPL Baltimore (Lys39Asn) mutation has been reported as a cause of thrombocytosis in 7% of African Americans. 23511495 2013
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
0.020 GeneticVariation BEFREE K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis. 15269348 2004