Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.010 GeneticVariation BEFREE We tested this hypothesis on a BaF/3 cell line modified to express either KIT wild-type (WT) or KIT D816V, on the human mastocytoma cell line HMC1.2, and among 28 patients with proven SM who did (n = 24) or did not (n = 4) carry the D816V KIT mutation and displayed various SM subtypes by using a simple flow cytometry assay to quantify KIT relocalization upon dasatinib treatment. 23127495

2013