Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41316003
rs41316003
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1
0.010 GeneticVariation BEFREE Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. 27389715

2016