Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519700
rs1057519700
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.710 GeneticVariation BEFREE Recently, a previously undescribed N659K PDGFRA exon 14 mutation has been reported in GISTs. 16258521

2006

dbSNP: rs1057519700
rs1057519700
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.710 CausalMutation CLINVAR PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 15928335

2005

dbSNP: rs1057519700
rs1057519700
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
A 0.710 CausalMutation CLINVAR PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. 15928335

2005

dbSNP: rs1057519700
rs1057519700
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423

2003

dbSNP: rs1057519700
rs1057519700
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
A 0.710 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423

2003