Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934578
rs28934578
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.750 CausalMutation CLINVAR

dbSNP: rs28934576
rs28934576
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.740 CausalMutation CLINVAR

dbSNP: rs11540652
rs11540652
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.720 CausalMutation CLINVAR

dbSNP: rs786201057
rs786201057
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587782705
rs587782705
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.700 CausalMutation CLINVAR

dbSNP: rs55832599
rs55832599
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28934574
rs28934574
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691042
rs1131691042
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691003
rs1131691003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854066
rs878854066
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Two out of the four p53(wt) relapsing breast cancer patients showed the Arg72Pro allelic variant; one of these died at 75 months. 12702523

2003

dbSNP: rs1131691014
rs1131691014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Two out of the four p53(wt) relapsing breast cancer patients showed the Arg72Pro allelic variant; one of these died at 75 months. 12702523

2003

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Two out of the four p53(wt) relapsing breast cancer patients showed the Arg72Pro allelic variant; one of these died at 75 months. 12702523

2003

dbSNP: rs878854066
rs878854066
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A. 14634508

2003

dbSNP: rs1131691014
rs1131691014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A. 14634508

2003

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A. 14634508

2003

dbSNP: rs1064795369
rs1064795369
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE The tightly linked intronic ATM polymorphisms IVS22-77 T>C and IVS48 + 238 C>G, in the homozygote state were associated with increased BC risk [IVS22-77 CC versus TT odds ratio (OR), 1.67; 95% confidence interval (CI), 1.00-2.81], and in the heterozygote state with clinical radioprotection (IVS22-77 CT versus TT OR, 0.45; 95% CI, 0.24-0.85). 14695186

2003

dbSNP: rs1057519981
rs1057519981
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The tightly linked intronic ATM polymorphisms IVS22-77 T>C and IVS48 + 238 C>G, in the homozygote state were associated with increased BC risk [IVS22-77 CC versus TT odds ratio (OR), 1.67; 95% confidence interval (CI), 1.00-2.81], and in the heterozygote state with clinical radioprotection (IVS22-77 CT versus TT OR, 0.45; 95% CI, 0.24-0.85). 14695186

2003

dbSNP: rs878854066
rs878854066
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483

2004

dbSNP: rs1131691014
rs1131691014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483

2004

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483

2004

dbSNP: rs17849781
rs17849781
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483

2004

dbSNP: rs878854066
rs878854066
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Allele distribution of the R72P missense mutation between ethnically diverse Jewish breast cancer cases and average risk controls showed significant differences: among non-Ashkenazi breast cancer cases, 62.5%, 33.3% and 4.2% were homozygous, heterozygous and homozygous for the Arg72, Arg72Pro and the Pro72 polymorphism, respectively, whereas for controls, the distribution was 22.4%, 65.4% and 12.2%, respectively (P=0.00052), and among Ashkenazi breast cancer cases, allele distribution was 68.5%, 29.6% and 1.9%, whereas for controls, the distribution was 50%, 40% and 10%, respectively (P=0.0125). 15756275

2005

dbSNP: rs1131691014
rs1131691014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Allele distribution of the R72P missense mutation between ethnically diverse Jewish breast cancer cases and average risk controls showed significant differences: among non-Ashkenazi breast cancer cases, 62.5%, 33.3% and 4.2% were homozygous, heterozygous and homozygous for the Arg72, Arg72Pro and the Pro72 polymorphism, respectively, whereas for controls, the distribution was 22.4%, 65.4% and 12.2%, respectively (P=0.00052), and among Ashkenazi breast cancer cases, allele distribution was 68.5%, 29.6% and 1.9%, whereas for controls, the distribution was 50%, 40% and 10%, respectively (P=0.0125). 15756275

2005

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Allele distribution of the R72P missense mutation between ethnically diverse Jewish breast cancer cases and average risk controls showed significant differences: among non-Ashkenazi breast cancer cases, 62.5%, 33.3% and 4.2% were homozygous, heterozygous and homozygous for the Arg72, Arg72Pro and the Pro72 polymorphism, respectively, whereas for controls, the distribution was 22.4%, 65.4% and 12.2%, respectively (P=0.00052), and among Ashkenazi breast cancer cases, allele distribution was 68.5%, 29.6% and 1.9%, whereas for controls, the distribution was 50%, 40% and 10%, respectively (P=0.0125). 15756275

2005

dbSNP: rs879253942
rs879253942
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece. 15837541

2005