rs121913507, KIT

N. diseases: 49
Disease: Mast-Cell Sarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mast-Cell Sarcoma
CUI: C0036221
Disease: Mast-Cell Sarcoma
0.010 GeneticVariation BEFREE The KIT D816V mutation is frequently found in systemic mastocytosis, but it has not been documented in the few reported human MCS cases. 23388130 2013