Disease: Cutaneous Mastocytosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.030 GeneticVariation BEFREE Detection of KIT D816V in peripheral blood of children with manifestations of cutaneous mastocytosis suggests systemic disease. 30488427 2018
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.030 GeneticVariation BEFREE In summary, we confirmed a high incidence of two distinct c-kit mutations, Asp8</span>16Val and Asp816Phe, in patients with childhood-onset cuta</span>neous mastocytosis. 15858149 2005
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis 		0.030 GeneticVariation BEFREE Asp-816-->Val with a subset of sporadic persistent (systemic) mastocytosis (mostly adults), and Gly-839-->Lys with (a subset of) typical pediatric (mostly cutaneous) mastocytosis. 10529583 1999