rs199469667, MED12

N. diseases: 3
Disease: Adenosarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenosarcoma
CUI: C0001442
Disease: Adenosarcoma
0.010 GeneticVariation BEFREE The three 'variant adenosarcomas' harboured MED12 exon 2 mutations (including p.L36R hotspot mutation, recurrent p.L39_A50del, and a novel splice site mutation). 28002623 2017