Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778720
rs587778720
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		T 0.700 CausalMutation CLINVAR Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case. 21626334

2011
dbSNP: rs587778720
rs587778720
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		T 0.700 CausalMutation CLINVAR Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation. 18208484

2008
dbSNP: rs587778720
rs587778720
TP53
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		T 0.700 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007