Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Refractory anemia with ringed sideroblasts
0.030 GeneticVariation BEFREE Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. 20194893

2010

dbSNP: rs77375493
rs77375493
Refractory anemia with ringed sideroblasts
0.030 GeneticVariation BEFREE Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to be a JAK2-V617F mutation-related disorder. 18166783

2008

dbSNP: rs77375493
rs77375493
Refractory anemia with ringed sideroblasts
0.030 GeneticVariation BEFREE Within this group, most of the patients harboring JAK2 V617F mutation showed features consistent with the provisional MDS/MPD-U entity refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T). 16741247

2006