Variant Gene Disease 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 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 Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. 16670082

2006

dbSNP: rs77375493
rs77375493
Refractory anemia with ringed sideroblasts
0.030 GeneticVariation BEFREE Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. 16741247

2006