Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
TP53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.040 GeneticVariation BEFREE The high incidence of adrenocortical tumors and choroid plexus carcinoma in children from South and Southeastern regions of Brazil is associated with the germline p.R337H mutation of TP53 gene. 26452166

2015
dbSNP: rs121912664
rs121912664
TP53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.040 GeneticVariation BEFREE TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma. 24122735

2013
dbSNP: rs121912664
rs121912664
TP53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.040 GeneticVariation BEFREE Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. 21445348

2011
dbSNP: rs121912664
rs121912664
TP53
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		0.040 GeneticVariation BEFREE The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome. 21192060

2011