Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010
dbSNP: rs1042522
rs1042522
TP53
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.010 GeneticVariation BEFREE Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). 24935583

2014
dbSNP: rs1042522
rs1042522
TP53
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.060 GeneticVariation BEFREE Arg72Pro p53 polymorphism in Italian women: no association with endometriosis. 17412337

2007
dbSNP: rs1042522
rs1042522
TP53
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 GeneticVariation BEFREE Our data suggest that R72P variant seems to be associated with high risk for development of CRC but carries low risk for development of UC. 20309662

2010
dbSNP: rs1042522
rs1042522
TP53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation BEFREE Arg72Pro SNP of p53 has been associated with many types of cancer as well as with survival and longevity. 22116280

2011
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation BEFREE Arg72Pro SNP of p53 has been associated with many types of cancer as well as with survival and longevity. 22116280

2011
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.020 GeneticVariation BEFREE R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. 25768405

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation BEFREE Arg72Pro and PIN3(16bp duplication) polymorphisms are proposed to have an effective role in structural changes of p53 and have therefore attracted interest as a risk factor for breast cancer in different populations. 25854391

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE Arg72Pro and PIN3(16bp duplication) polymorphisms are proposed to have an effective role in structural changes of p53 and have therefore attracted interest as a risk factor for breast cancer in different populations. 25854391

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.040 GeneticVariation BEFREE A common single nucleotide repeat (snp) in exon 3 (rs1042522) and deletion sequencing chromatograms in exon 4 were examined in combination to estimate LOH in both LFS tubes and advanced serous carcinomas from the general population. 19834951

2010
dbSNP: rs1042522
rs1042522
TP53
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.030 GeneticVariation BEFREE A common single nucleotide repeat (snp) in exon 3 (rs1042522) and deletion sequencing chromatograms in exon 4 were examined in combination to estimate LOH in both LFS tubes and advanced serous carcinomas from the general population. 19834951

2010
dbSNP: rs1042522
rs1042522
TP53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation BEFREE A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. 16419081

2006
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation BEFREE A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. 16419081

2006
dbSNP: rs1042522
rs1042522
TP53
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.100 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.100 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.100 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402

2015
dbSNP: rs1042522
rs1042522
TP53
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation BEFREE A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers. 27852141

2017
dbSNP: rs1042522
rs1042522
TP53
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 GeneticVariation BEFREE A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers. 27852141

2017
dbSNP: rs1042522
rs1042522
TP53
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		0.010 GeneticVariation BEFREE A series of 100 STS were genotyped for the p53 Arg72Pro polymorphism using polymerase chain reaction. 19065769

2008
dbSNP: rs1042522
rs1042522
TP53
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.010 GeneticVariation BEFREE A series of 100 STS were genotyped for the p53 Arg72Pro polymorphism using polymerase chain reaction. 19065769

2008
dbSNP: rs1042522
rs1042522
TP53
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE A significant association was found between TP53Arg72Pro (rs1042522) and CDH1 -160 C/A (rs16260) polymorphisms and breast cancer risk. 26666818

2016
dbSNP: rs1042522
rs1042522
TP53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation BEFREE A significant association was found between TP53Arg72Pro (rs1042522) and CDH1 -160 C/A (rs16260) polymorphisms and breast cancer risk. 26666818

2016