Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041

2018

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 21659346

2011

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922

2009

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784

2008

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171

2008

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591

2006

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 11972523

2002

dbSNP: rs28928907
rs28928907
MPL
C 0.700 CausalMutation CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406

2000