Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort. 23894400

2013
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Transactivation and reactivation capabilities of temperature-dependent p53 mutants in yeast and human cells. 22710932

2012
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Tumour p53 mutations exhibit promoter selective dominance over wild type p53. 11896595

2002
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR p53 mutants can often transactivate promoters containing a p21 but not Bax or PIG3 responsive elements. 11429705

2001
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Identification of a tumor-derived p53 mutant with novel transactivating selectivity. 10871862

2000
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Novel p53 mutants selected in BRCA-associated tumours which dissociate transformation suppression from other wild-type p53 functions. 10229196

1999
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR A transforming p53 mutant, which binds DNA, transactivates and induces apoptosis reveals a nuclear:cytoplasmic shuttling defect. 9525742

1998
dbSNP: rs864622237
rs864622237
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		G 0.700 GeneticVariation CLINVAR Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. 8080050

1994