rs121913506, KIT

N. diseases: 24
Disease: Dysgerminoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
0.020 GeneticVariation BEFREE The teratoma and dysgerminoma differed by copy number aberrations via single nucleotide polymorphism (SNP) microarray, but were inclusive of the same c-KIT D816H point mutation (c.2446G>C) also identified in blood and bone marrow mast cells. 27781377 2017
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
0.020 GeneticVariation BEFREE A novel missense mutation (D816H) was found in the phosphotransferase domain in tumors of seminoma/dysgerminoma differentiation. 10362788 1999