Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.820 GeneticVariation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer. 8425176

1993
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Gain of function mutations in p53. 8099841

1993
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR The first documentation of Li-Fraumeni syndrome in Korea. 8527048

1995
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.820 GeneticVariation CLINVAR Screening the p53 status of human cell lines using a yeast functional assay. 9290701

1997
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. 9598730

1998
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations. 9825943

1998
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.820 GeneticVariation CLINVAR Complex functions of mutant p53 alleles from human prostate cancer. 11920959

2002
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.820 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		C 0.820 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs121912651
rs121912651
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM. 17417627

2007