Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs993022333
rs993022333
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1136033
Disease:
Cutaneous Mastocytosis
0.010 GeneticVariation BEFREE Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011