Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
0.100 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993

dbSNP: rs11540652
rs11540652
0.050 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993

dbSNP: rs1019340046
rs1019340046
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993

dbSNP: rs750600586
rs750600586
0.010 GeneticVariation BEFREE Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies. 8321049

1993

dbSNP: rs876660829
rs876660829
0.010 GeneticVariation BEFREE Direct sequencing of the mutant band revealed that one patient had a C to T transition at codon 138 (Ala to Val) and one patient had a G to C transversion at codon 139 (Lys to Asn). p53 mutations in germline cells in hereditary cancer syndromes predispose the family members to the development of malignancies. 8321049

1993

dbSNP: rs587782529
rs587782529
0.010 GeneticVariation BEFREE Thus, the R337C mutant retains some functional activity yet leads to a predisposition to cancer, suggesting that even partial inactivation of p53 oligomerization is sufficient for accelerated tumour progression. 9704931

1998

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The p53 codon 72 Arg/Pro polymorphism has been suggested to be associated with susceptibility to tobacco-related cancers, but this association remains controversial. 12065086

2002

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE The p53 codon 72 Arg/Pro polymorphism has been suggested to be associated with susceptibility to tobacco-related cancers, but this association remains controversial. 12065086

2002

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE The p53 codon 72 Arg/Pro polymorphism has been suggested to be associated with susceptibility to tobacco-related cancers, but this association remains controversial. 12065086

2002

dbSNP: rs876659384
rs876659384
0.010 GeneticVariation BEFREE The E287X TP53 mutation segregated with the cancer phenotype in the family members from whom DNA samples were available. 15368100

2004

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Codon 72 exon 4 polymorphism (Arg72Pro) of the p53 gene has been implicated in cancer risk. 15633234

2005

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694

2005

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694

2005

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Codon 72 exon 4 polymorphism (Arg72Pro) of the p53 gene has been implicated in cancer risk. 15633234

2005

dbSNP: rs121912664
rs121912664
0.100 GeneticVariation BEFREE There was no association between the presence of germline or tissue R337H p53 mutation and malignancy at diagnosis. 15952083

2005

dbSNP: rs28934576
rs28934576
0.100 GeneticVariation BEFREE Neither dicoumarol nor curcumin dissociated the complexes of NQO1 and the human cancer hot-spot p53 R273H mutant and therefore did not induce degradation of this mutant. 15809436

2005

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Codon 72 exon 4 polymorphism (Arg72Pro) of the p53 gene has been implicated in cancer risk. 15633234

2005

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694

2005

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE To explore the impact of the p53 PIN3-Arg72Pro haplotype on colorectal adenoma formation and progression to cancer. 17374954

2006

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE p53 Arg72Pro polymorphism and risk of colorectal adenoma and cancer. 16721787

2006

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. 16419081

2006

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE p53 Arg72Pro polymorphism and risk of colorectal adenoma and cancer. 16721787

2006

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE To explore the impact of the p53 PIN3-Arg72Pro haplotype on colorectal adenoma formation and progression to cancer. 17374954

2006

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. 16419081

2006

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE To explore the impact of the p53 PIN3-Arg72Pro haplotype on colorectal adenoma formation and progression to cancer. 17374954

2006