Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3822214
rs3822214
KIT
0.020 GeneticVariation BEFREE The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy. 25015329

2014
dbSNP: rs3822214
rs3822214
KIT
0.020 GeneticVariation BEFREE The data suggest that the single nucleotide polymorphism resulting in the substitution M541L may predispose to paediatric mastocytosis. 18795925

2008