Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1560418178
rs1560418178
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
A 0.700 GeneticVariation CLINVAR Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts. 17124503 2007
dbSNP: rs1560418178
rs1560418178
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
A 0.700 GeneticVariation CLINVAR New mutations of KIT gene in two Chinese patients with piebaldism. 17107413 2006
dbSNP: rs1560418178
rs1560418178
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
A 0.700 GeneticVariation CLINVAR Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. 7529964 1995