rs121912667, TP53

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
0.710 GeneticVariation BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572 2008
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
0.710 CausalMutation CLINVAR
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572 2008
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
Adrenocortical Carcinoma, Pediatric
CUI: C1859973
Disease: Adrenocortical Carcinoma, Pediatric
0.700 CausalMutation CLINVAR
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
0.010 GeneticVariation BEFREE Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 18762572 2008