Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690

1998
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 11505412

2001
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation. 22685257

2012
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 15824741

2005
dbSNP: rs121913517
rs121913517
KIT
0.850 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704

2014
dbSNP: rs121913517
rs121913517
KIT
A 0.850 CausalMutation CLINVAR

dbSNP: rs121913517
rs121913517
KIT
G 0.850 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913517
rs121913517
KIT
A 0.850 GeneticVariation CLINVAR Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells. 23582185

2013
dbSNP: rs121913517
rs121913517
KIT
G 0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913517
rs121913517
KIT
A 0.850 GeneticVariation CLINVAR Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs121913517
rs121913517
KIT
C 0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs121913517
rs121913517
KIT
A 0.850 GeneticVariation CLINVAR Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs. 17259998

2007
dbSNP: rs121913517
rs121913517
KIT
A 0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor. 23470635

2013
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012
dbSNP: rs113488022
rs113488022
BRAF
T 0.800 CausalMutation CLINVAR BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected. 19561230

2009
dbSNP: rs121908585
rs121908585
PDGFRA
T 0.800 CausalMutation CLINVAR A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. 15146165

2004
dbSNP: rs121908585
rs121908585
PDGFRA
T 0.800 CausalMutation CLINVAR Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. 16954519

2006
dbSNP: rs121908585
rs121908585
PDGFRA
T 0.800 CausalMutation CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423

2003
dbSNP: rs121908585
rs121908585
PDGFRA
T 0.800 CausalMutation CLINVAR Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. 22718859

2012