Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553370918
rs1553370918
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913513
rs121913513
KIT
0.010 GeneticVariation BEFREE A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. 23598963

2013