Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 24989799

2014
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and significantly prolonged the survival of mice with aggressive systemic mastocytosis or mast cell leukemia by impeding the expansion and infiltration of mast cells with imatinib-resistant D814Y KIT. 24552773

2014
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis. 24989799

2014
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE Moreover, ponatinib was highly active against xenografted D816V KIT tumors in nude mice and significantly prolonged the survival of mice with aggressive systemic mastocytosis or mast cell leukemia by impeding the expansion and infiltration of mast cells with imatinib-resistant D814Y KIT. 24552773

2014