Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		0.020 GeneticVariation BEFREE Younger age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in RARS-T. 23594705

2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		0.020 GeneticVariation BEFREE JAK2 and MPL mutations were detected in circulating granulocytes and bone marrow CD34+ cells, but not in T lymphocytes, from 11 of 19 patients with RARS-T. Three patients with RARS, who initially had low to normal platelet counts, progressed to RARS-T, and 2 of them acquired JAK2 (V617F) at this time. 19692701

2009