Gene: KIT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519702
rs1057519702
KIT
C 0.700 CausalMutation CLINVAR Genetic aberrations in primary esophageal melanomas: molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases. 21131919

2011
dbSNP: rs1057519703
rs1057519703
KIT
T 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519703
rs1057519703
KIT
C 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519703
rs1057519703
KIT
C 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519703
rs1057519703
KIT
T 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
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: 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: rs1057519705
rs1057519705
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519705
rs1057519705
KIT
G 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519706
rs1057519706
KIT
G 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519706
rs1057519706
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs1057519708
rs1057519708
KIT
A 0.700 CausalMutation CLINVAR Transcriptome sequencing of melanocytic nevi and melanomas from Grm1 transgenic mice to determine melanoma driver mutations. 24661573

2014
dbSNP: rs1057519708
rs1057519708
KIT
G 0.700 CausalMutation CLINVAR KIT amplification and gene mutations in acral/mucosal melanoma in Korea. 21569090

2011
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. 18955458

2008
dbSNP: rs1057519710
rs1057519710
KIT
T 0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011
dbSNP: rs1057519710
rs1057519710
KIT
0.710 GeneticVariation BEFREE Finally, we found significant growth suppressive effects of sunitinib in two acral melanoma cell lines; one harboring the D820Y mutation and one showing SCF-dependent KIT activation. 19035443

2009
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509

1995
dbSNP: rs1057519710
rs1057519710
KIT
T 0.710 CausalMutation CLINVAR Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin. 23775962

2013
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. 21690468

2011
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs1057519710
rs1057519710
KIT
T 0.710 CausalMutation CLINVAR Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure. 20088873

2010
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685

2011