Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. 12960119

2003
dbSNP: rs121913517
rs121913517
KIT
C 0.700 CausalMutation CLINVAR Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. 12960119

2003
dbSNP: rs121913685
rs121913685
KIT
G 0.700 CausalMutation CLINVAR Thymic carcinoma with overexpression of mutated KIT and the response to imatinib. 15201427

2004
dbSNP: rs121913685
rs121913685
KIT
G 0.700 CausalMutation CLINVAR Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. 15930355

2005
dbSNP: rs1057519711
rs1057519711
KIT
A 0.700 CausalMutation CLINVAR Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 17699867

2007
dbSNP: rs121913513
rs121913513
KIT
C 0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913685
rs121913685
KIT
G 0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913513
rs121913513
KIT
C 0.700 CausalMutation CLINVAR Mutational status of EGFR and KIT in thymoma and thymic carcinoma. 18448188

2008
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.010 GeneticVariation BEFREE This activity was coupled with inhibition of phosphorylation of the key JAK2(V617F)-dependent downstream signaling effectors signal transducer and activator of transcription (STAT)3, STAT5, and v-akt murine thymoma viral oncogene homolog (AKT). 18482053

2008
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
0.710 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435

2009
dbSNP: rs1057519711
rs1057519711
KIT
A 0.700 CausalMutation CLINVAR Long lasting response to the multikinase inhibitor bay 43-9006 (Sorafenib) in a heavily pretreated metastatic thymic carcinoma. 19461405

2009
dbSNP: rs121913685
rs121913685
KIT
G 0.700 CausalMutation CLINVAR Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas. 19861435

2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435

2009
dbSNP: rs112445441
rs112445441
KRAS
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435

2009
dbSNP: rs121913529
rs121913529
KRAS
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435

2009
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435

2009
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
A 0.710 GeneticVariation CLINVAR Thymic tumors: relevant molecular data in the clinic. 20859122

2010
dbSNP: rs121913517
rs121913517
KIT
C 0.700 CausalMutation CLINVAR Imatinib upregulates compensatory integrin signaling in a mouse model of gastrointestinal stromal tumor and is more effective when combined with dasatinib. 20736294

2010
dbSNP: rs1057519701
rs1057519701
KIT
A 0.700 CausalMutation CLINVAR Large-scale analysis of KIT aberrations in Chinese patients with melanoma. 21325067

2011
dbSNP: rs1057519704
rs1057519704
KIT
A 0.700 CausalMutation CLINVAR Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494

2011
dbSNP: rs1131692239
rs1131692239
KIT
T 0.700 CausalMutation CLINVAR Promising efficacy of sorafenib in a relapsed thymic carcinoma with C-KIT exon 11 deletion mutation. 20970876

2011
dbSNP: rs1057519701
rs1057519701
KIT
A 0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012
dbSNP: rs1057519704
rs1057519704
KIT
A 0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012
dbSNP: rs1057519711
rs1057519711
KIT
A 0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254

2012