Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780075
rs587780075
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Allele specific gain-of-function activity of p53 mutants in lung cancer cells. 22989750

2012
dbSNP: rs587780075
rs587780075
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome. 10435620

1999
dbSNP: rs587780075
rs587780075
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Constitutional p53 mutation in a non-Li-Fraumeni cancer family. 1562462

1992
dbSNP: rs587780075
rs587780075
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR TP53 tumor suppressor gene: a model for investigating human mutagenesis. 1377002

1992