Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750046020
rs750046020
MPL
T 0.700 CausalMutation CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015
dbSNP: rs750046020
rs750046020
MPL
T 0.700 CausalMutation CLINVAR Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 19036112

2009