Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs559063155
rs559063155
SF3B1
0.030 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231

2017
dbSNP: rs559063155
rs559063155
SF3B1
0.030 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819

2017
dbSNP: rs559063155
rs559063155
SF3B1
0.030 GeneticVariation BEFREE Thus, SF3B1(K700E) expression reflects the phenotype of the mutation in MDS and may be a therapeutic target in MDS. 27622333

2016