Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Marked response to imatinib mesylate in metastatic acral lentiginous melanoma on the thumb. 20545949

2011
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589

2008
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976

2008
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901

2007
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931

2006
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786

2005
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010

2001
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913512
rs121913512
KIT
CUI: C0025202
Disease: melanoma
melanoma 		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