Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10509681
rs10509681
CYP2C8
0.010 GeneticVariation BEFREE This study investigates the effect of common CYP2C8 polymorphisms [*1B (rs7909236), *1C (rs17110453), *3 (rs11572080 and rs10509681), and *4 (rs1058930)] on steady-state trough levels imatinib during chronic imatinib use in 43 patients with chronic myeloid leukemia or gastrointestinal stromal tumors. 28383355

2017
dbSNP: rs1056836
rs1056836
CYP1B1
0.010 GeneticVariation BEFREE Although none of the association p-values were statistically significant after adjustment for multiple comparisons, SNPs in CYP1B1 were strongly associated with KIT exon 11 codon 557-8 deletions (OR = 1.9, 95% CI: 1.3-2.9 for rs2855658 and OR = 1.8, 95% CI: 1.2-2.7 for rs1056836) and wild type GISTs (OR = 2.7, 95% CI: 1.5-4.8 for rs1800440 and OR = 0.5, 95% CI: 0.3-0.9 for rs1056836). 23637977

2013
dbSNP: rs1057518903
rs1057518903
MEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519700
rs1057519700
PDGFRA
G 0.710 CausalMutation CLINVAR PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 15928335

2005
dbSNP: rs1057519700
rs1057519700
PDGFRA
G 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423

2003
dbSNP: rs1057519700
rs1057519700
PDGFRA
0.710 GeneticVariation BEFREE Recently, a previously undescribed N659K PDGFRA exon 14 mutation has been reported in GISTs. 16258521

2006
dbSNP: rs1057519700
rs1057519700
PDGFRA
A 0.710 CausalMutation CLINVAR PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 15928335

2005
dbSNP: rs1057519700
rs1057519700
PDGFRA
A 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423

2003
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 GeneticVariation CLINVAR Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. 17489795

2007
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 GeneticVariation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 GeneticVariation CLINVAR Characterization of tyrosine kinase I domain c-kit gene mutation Asn655Lys newly found in primary jejunal gastrointestinal stromal tumor. 17489795

2007
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST. 14699510

2004
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638

2013
dbSNP: rs1057519710
rs1057519710
KIT
0.030 GeneticVariation BEFREE Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 19847891

2010
dbSNP: rs1057519711
rs1057519711
KIT
0.010 GeneticVariation BEFREE These were PDX models harboring primary and secondary <i>KIT</i> and additional mutations; <i>KIT</i> exon 11 (p.Y570_L576del), <i>KIT</i> exon 17 (p.D816E), and <i>PTEN</i> (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and <i>KIT</i> exon 11 (p.K550_splice) and <i>KIT</i> exon 14 (p.T670I) mutations in GIST-RX2 and <i>KIT</i> exon 9 (p.502_503insYA) and <i>KIT</i> exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively. 29100343

2017
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation. 17259998

2007
dbSNP: rs1057519761
rs1057519761
KIT
G 0.700 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs1057520031
rs1057520031
KIT
G 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520031
rs1057520031
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs1057520032
rs1057520032
KIT
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057520032
rs1057520032
KIT
C 0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006