Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 CausalMutation 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 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 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 c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001
dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Thrombocytopenia in c-mpl-deficient mice. 8073287

1994