Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1560417396
rs1560417396
KIT
AA 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417427
rs1560417427
KIT
CC 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417438
rs1560417438
KIT
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417535
rs1560417535
KIT
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417642
rs1560417642
KIT
GACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417666
rs1560417666
KIT
ACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1560417673
rs1560417673
KIT
CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1560420761
rs1560420761
KIT
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776804
rs587776804
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs869025568
rs869025568
KIT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121913506
rs121913506
KIT
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913506
rs121913506
KIT
C 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913506
rs121913506
KIT
0.710 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638

2013
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: rs121913506
rs121913506
KIT
C 0.710 GeneticVariation CLINVAR Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance. 20147452

2010
dbSNP: rs121913506
rs121913506
KIT
C 0.710 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557

2009
dbSNP: rs121913506
rs121913506
KIT
T 0.710 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557

2009
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
dbSNP: rs121913506
rs121913506
KIT
T 0.710 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs121913523
rs121913523
KIT
0.730 GeneticVariation BEFREE In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants <i>in vitro</i> and <i>in vivo</i> GIST preclinical models. 31205508

2019
dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation. 28710566

2018
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813

2017
dbSNP: rs121913235
rs121913235
KIT
A 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014