Gene: KIT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913235
rs121913235
KIT
A 0.700 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: rs121913235
rs121913235
KIT
C 0.700 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: rs121913506
rs121913506
KIT
C 0.700 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: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation 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: rs121913517
rs121913517
KIT
C 0.700 GeneticVariation 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: rs121913517
rs121913517
KIT
A 0.700 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: rs121913506
rs121913506
KIT
T 0.700 GeneticVariation CLINVAR Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 16741525

2006
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913513
rs121913513
KIT
C 0.760 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 Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913506
rs121913506
KIT
C 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913517
rs121913517
KIT
C 0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs1057519710
rs1057519710
KIT
C 0.710 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913506
rs121913506
KIT
C 0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998