rs77375493, INSL6;JAK2

N. diseases: 187
Disease: Refractory anemia with ringed sideroblasts ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Refractory anemia with ringed sideroblasts
CUI: C1264195
Disease: 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
Refractory anemia with ringed sideroblasts
CUI: C1264195
Disease: 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
Refractory anemia with ringed sideroblasts
CUI: C1264195
Disease: 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