Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.740 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061

2012
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.740 GeneticVariation BEFREE In contrast, G245S/- mice were similar to null mice in tumor latency and survival. 23538418

2013
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.740 GeneticVariation BEFREE The patient harbored a germline TP53 G245C mutation, and the primary tumor showed loss of heterozygosity with retention of the mutated TP53 allele. 23406775

2013
dbSNP: rs28934575
rs28934575
TP53
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.740 GeneticVariation BEFREE TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers. 30126368

2018