rs886039484, TP53

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 GeneticVariation CLINVAR
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 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
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/arginine [Ser(31)Arg]) of the p21 gene, which is known to be a downstream mediator of p53, has also been reported. 15099969 2004
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE An association between endometrial cancer and the polymorphism at codon 31 (AGC/serine to AGA/arginine [Ser(31)Arg]) of the p21 gene, which is known to be a downstream mediator of p53, has also been reported. 15099969 2004
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.010 GeneticVariation BEFREE Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles of the TP53 Arg72Pro and p21 Ser31Arg polymorphisms. 17059853 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 GeneticVariation BEFREE Furthermore, paired normal tissue was available for 3 of 20 breast carcinomas with the Ser31Arg transversion. 9006333 1997
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201 1995
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.010 GeneticVariation BEFREE No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese. 7606201 1995
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.030 GeneticVariation BEFREE P21 Ser31Arg and FGFR2 rs2981582 Polymorphisms as Risk Factors for Early Onset of Breast Cancer in Yogyakarta, Indonesia. 31759353 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 GeneticVariation BEFREE P21 Ser31Arg and FGFR2 rs2981582 Polymorphisms as Risk Factors for Early Onset of Breast Cancer in Yogyakarta, Indonesia. 31759353 2019
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539 2007
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539 2007
Childhood Non-Hodgkin Lymphoma
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese. 15291355 2004
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese. 15291355 2004
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
0.010 GeneticVariation BEFREE Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese. 15291355 2004