Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519704
rs1057519704
KIT
CUI: C0025202
Disease: melanoma
melanoma 		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
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494

2011