Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis. 23970983

2013

dbSNP: rs121913614
rs121913614
MPL
0.710 GeneticVariation BEFREE The S505N mutation, associated with familial MPD, was detected in 3 patients. 21326037

2011

dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. 18451306

2008

dbSNP: rs121913614
rs121913614
MPL
A 0.710 GeneticVariation CLINVAR New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 18528423

2008