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: C1292778
Disease:
Chronic myeloproliferative disorder
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
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.710 GeneticVariation BEFREE The S505N mutation, associated with familial MPD, was detected in 3 patients. 21326037 2011
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
A 0.710 GeneticVariation CLINVAR MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort. 18451306 2008
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
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