Disease: Gastrointestinal Stromal Tumors ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.030 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638 2013
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.030 GeneticVariation BEFREE Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. 19847891 2010
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.030 GeneticVariation BEFREE In a previous study, a KIT germline Asp820Tyr mutation was detected in a Japanese kindred in which 6 individuals had GIST. 14699510 2004