Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913521
rs121913521
KIT
0.010 GeneticVariation BEFREE To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the <i>KIT</i> V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission. 28439288

2017