rs28934576, TP53

N. diseases: 78
Disease: Osteosarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.720 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429 2012
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.720 GeneticVariation BEFREE On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regulated procaspase-3 level and induced resistance to the drug toxicity and drug-induced apoptosis. 17363498 2007
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.720 CausalMutation CLINVAR