Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation. 28710566

2018

dbSNP: rs121913235
rs121913235
KIT
A 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively). 21953054

2012

dbSNP: rs121913235
rs121913235
KIT
A 0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913235
rs121913235
KIT
G 0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006

dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor. 16226710

2005

dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 14977822

2004

dbSNP: rs121913235
rs121913235
KIT
0.730 GeneticVariation BEFREE This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution. 15161681

2004

dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. 10680913

2000

dbSNP: rs121913235
rs121913235
KIT
C 0.730 GeneticVariation CLINVAR Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region. 10224103

1999