Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913520
rs121913520
KIT
A 0.710 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs121913520
rs121913520
KIT
A 0.710 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs121913520
rs121913520
KIT
A 0.710 GeneticVariation CLINVAR These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy. 17259998

2007
dbSNP: rs121913520
rs121913520
KIT
0.710 GeneticVariation BEFREE These results suggest that different mutations, even at the same codon, in juxtamembrane domain of the c-kit gene show different inhibitory effects of imatinib, and that patients with GISTs or mast cell neoplasms possessing this Val559Ile mutation are resistant to imatinib therapy. 17259998

2007