rs121913506, KIT

N. diseases: 24
Disease: Germ cell tumor ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Germ cell tumor
CUI: C0205851
Disease: Germ cell tumor
0.010 GeneticVariation BEFREE An activating point mutation of the c-KIT tyrosine kinase receptor gene, D816H, has been described in germ cell tumors (GCTs). 27781377 2017