Gene: KIT ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913514
rs121913514
KIT
G 0.700 CausalMutation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406

2012
dbSNP: rs121913523
rs121913523
KIT
A 0.700 GeneticVariation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406

2012
dbSNP: rs121913523
rs121913523
KIT
C 0.700 CausalMutation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406

2012
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR We have identified the first human melanoma cell line with an endogenous L576P mutation, the most common KIT mutation in melanoma ( approximately 30-40%). 19671763

2009
dbSNP: rs993022333
rs993022333
KIT
T 0.700 CausalMutation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

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

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: 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: rs121913517
rs121913517
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: 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: rs1057519705
rs1057519705
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

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: rs121913517
rs121913517
KIT
G 0.700 CausalMutation CLINVAR The GIST of targeted therapy for malignant melanoma. 24531699

2014
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913235
rs121913235
KIT
C 0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913235
rs121913235
KIT
A 0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812

2012
dbSNP: rs121913513
rs121913513
KIT
C 0.760 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs121913512
rs121913512
KIT
G 0.700 GeneticVariation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs121913517
rs121913517
KIT
C 0.700 GeneticVariation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs121913517
rs121913517
KIT
A 0.700 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs1057519713
rs1057519713
KIT
C 0.700 CausalMutation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013