Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913521
rs121913521
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913521
rs121913521
KIT
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008
dbSNP: rs121913521
rs121913521
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008
dbSNP: rs121913521
rs121913521
KIT
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790

2008