Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
CUI: C0025202
Disease: melanoma
melanoma 		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
CUI: C0025202
Disease: melanoma
melanoma 		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