Disease: Familial thrombocytosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C4303761
Disease:
Familial thrombocytosis 		0.020 GeneticVariation BEFREE Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia</span>. 19713221 2010
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C4303761
Disease:
Familial thrombocytosis 		0.020 GeneticVariation BEFREE The recurrent MPL-S505N mutation found in the eight Italian families with hereditary thrombocythemia is likely due to a founder effect. 19608689 2009