Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882029
rs730882029
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.010 GeneticVariation BEFREE The germline mutation, R342X (16915C>T), and the novel mutation, R342P (16916G>C), were found in a child with adrenocortical carcinoma and in a LFS pediatric patient with multiple primaries. 19714490

2009