Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913682
rs121913682
KIT
0.030 GeneticVariation BEFREE <b>Background:</b> The D816V mutation of c-KIT can constitutively activate tyrosine kinase, thereby promote core binding factor acute myeloid leukemia (CBF-AML) cell proliferation and inhibit apoptosis. 31217744

2019
dbSNP: rs121913682
rs121913682
KIT
0.030 GeneticVariation BEFREE D816V mutation in the KIT gene activation loop has greater cell-proliferative and anti-apoptotic ability than N822K mutation in core-binding factor acute myeloid leukemia. 28506695

2017
dbSNP: rs121913682
rs121913682
KIT
0.030 GeneticVariation BEFREE Systemic mastocytosis is uncommon in KIT D816V mutation positive core-binding factor acute myeloid leukemia. 22145956

2012