Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146249964
rs146249964
MPL
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
A 0.700 GeneticVariation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753

2001

dbSNP: rs146249964
rs146249964
MPL
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
A 0.700 GeneticVariation CLINVAR Thrombocytopenia in c-mpl-deficient mice. 8073287

1994