rs730882002, TP53

N. diseases: 6
Disease: Neuroendocrine Tumors ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
0.010 GeneticVariation BEFREE TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs. 30851333 2019