Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. 20198344

2010

dbSNP: rs1042522
rs1042522
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
0.040 GeneticVariation BEFREE Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome. 21814224

2011

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143

2016

dbSNP: rs1057517840
rs1057517840
T 0.700 CausalMutation CLINVAR The p53 gene in pediatric therapy-related leukemia and myelodysplasia. 8639798

1996

dbSNP: rs1057517983
rs1057517983
0.700 GeneticVariation UNIPROT

dbSNP: rs1057519981
rs1057519981
G 0.800 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990

dbSNP: rs1057519981
rs1057519981
0.800 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

dbSNP: rs1057519985
rs1057519985
0.700 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995