Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514495
rs397514495
TP53
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Inherited p53 gene mutations in breast cancer. 1581912

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		T 0.700 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Screening for germ line TP53 mutations in breast cancer patients. 1591732

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		T 0.700 GeneticVariation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein. 1631137

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414

1995
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Alteration of p53 gene in ovarian carcinoma: clinicopathological correlation and prognostic significance. 7981076

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Prognostic significance of TP53 alterations in breast carcinoma. 8102535

1993
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 GeneticVariation CLINVAR Germline p53 gene mutations in subsets of glioma patients. 8308926

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR Germline p53 gene mutations in subsets of glioma patients. 8308926

1994
dbSNP: rs397514495
rs397514495
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. 8675009

1996
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs397514495
rs397514495
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast. 9546439

1998
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999
dbSNP: rs397514495
rs397514495
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.800 CausalMutation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705

2001