Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267605076
rs267605076
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 GeneticVariation BEFREE Evidence that protein phosphatase 2A (PP2A) is a tumor suppressor in humans came from the discovery of mutations in the genes encoding the Aα and Aβ subunits of the PP2A trimeric holoenzymes, Aα-B-C and Aβ-B-C. One point mutation, Aα-E64D, was found in a human lung carcinoma. 22262169

2012
dbSNP: rs267605076
rs267605076
TP53
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 GeneticVariation BEFREE The finding that the Aα mutation E64D, which was detected in a human lung carcinoma, increases the lung cancer incidence in mice suggests that this mutation also played a role in the development of the carcinoma in which it was discovered. 21791616

2011