Disease: Monoclonal mast cell activation syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C4267893
Disease:
Monoclonal mast cell activation syndrome 		0.010 GeneticVariation BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749 2018