Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517840
rs1057517840
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Increased oxidative metabolism in the Li-Fraumeni syndrome. 23484829

2013
dbSNP: rs1057517840
rs1057517840
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The p53 gene in pediatric therapy-related leukemia and myelodysplasia. 8639798

1996