rs121913521, KIT

N. diseases: 12
Disease: leukemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
leukemia
CUI: C0023418
Disease: leukemia
0.020 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019
leukemia
CUI: C0023418
Disease: leukemia
0.020 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