Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934575
rs28934575
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

dbSNP: rs28934575
rs28934575
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
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
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