Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1006158872
rs1006158872
MPL
0.700 GeneticVariation UNIPROT

dbSNP: rs1181555052
rs1181555052
THPO
0.010 GeneticVariation BEFREE We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) of the <i>THPO</i> gene. 29191945

2018
dbSNP: rs1196161699
rs1196161699
MPL
0.710 GeneticVariation BEFREE F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 20188141

2010
dbSNP: rs1196161699
rs1196161699
MPL
0.710 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: rs1448812001
rs1448812001
MPL
0.700 GeneticVariation UNIPROT MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591

2006
dbSNP: rs1448812001
rs1448812001
MPL
0.700 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044

2015
dbSNP: rs146249964
rs146249964
MPL
A 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: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs146249964
rs146249964
MPL
A 0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591

2006
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Thrombocytopenia in c-mpl-deficient mice. 8073287

1994
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838

2011
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs146249964
rs146249964
MPL
A 0.700 CausalMutation CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838

2011
dbSNP: rs1466463978
rs1466463978
THPO
0.010 GeneticVariation BEFREE Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation. 29296828

2017
dbSNP: rs148434485
rs148434485
MPL
T 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: rs1553128241
rs1553128241
MPL
A 0.700 GeneticVariation CLINVAR

dbSNP: rs17292650
rs17292650
MPL
0.010 GeneticVariation BEFREE Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation. 29296828

2017