Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928907
rs28928907
MPL
C 0.800 GeneticVariation CLINVAR

dbSNP: rs28928907
rs28928907
MPL
0.800 GeneticVariation UNIPROT

dbSNP: rs28928908
rs28928908
MPL
0.800 GeneticVariation UNIPROT

dbSNP: rs28928908
rs28928908
MPL
A 0.800 CausalMutation CLINVAR

dbSNP: rs1196161699
rs1196161699
MPL
0.710 GeneticVariation UNIPROT

dbSNP: rs1006158872
rs1006158872
MPL
0.700 GeneticVariation UNIPROT

dbSNP: rs121913610
rs121913610
MPL
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913611
rs121913611
MPL
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913612
rs121913612
MPL
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913613
rs121913613
MPL
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913615
rs121913615
MPL
T 0.700 CausalMutation CLINVAR

dbSNP: rs1343123940
rs1343123940
MPL
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1343123940
rs1343123940
MPL
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553128241
rs1553128241
MPL
A 0.700 GeneticVariation CLINVAR

dbSNP: rs758428763
rs758428763
MPL
0.700 GeneticVariation UNIPROT

dbSNP: rs764904424
rs764904424
MPL
0.700 GeneticVariation UNIPROT

dbSNP: rs770457041
rs770457041
MPL
G 0.700 CausalMutation CLINVAR

dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Thrombocytopenia in c-mpl-deficient mice. 8073287

1994
dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406

2000
dbSNP: rs28928907
rs28928907
MPL
C 0.800 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs587778514
rs587778514
MPL
C 0.700 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs587778515
rs587778515
MPL
C 0.700 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs28928907
rs28928907
MPL
C 0.800 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 0.800 CausalMutation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591

2006