Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Dasatinib overrides the differentiation blockage in a patient with mutant-<i>KIT</i> D816V positive CBFβ-MYH11 leukemia. 29545943

2018

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE Asp816Val mutation was found in 3.5% of cases of AML and Val560Gly mutation in 1 sample with acute biclonal leukemia. 25247397

2015

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010

dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In attempting to establish a murine model of human KIT(D816V) (hKIT(D816V))-mediated leukemia, we uncovered an unexpected relationship between cellular transformation and intracellular trafficking. 17060458

2007