Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813

2017
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE Sequencing of DNA extracted from tumor tissue of one of his GISTs revealed the KIT mutation in exon 11 (c.1727T>C). 23598963

2013
dbSNP: rs121913513
rs121913513
KIT
0.730 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893

2009
dbSNP: rs121913513
rs121913513
KIT
C 0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599

2006