rs121913344, TP53

N. diseases: 5
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. 27726232 2017
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. 24382691 2014
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. 23255406 2013
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR Three germline mutations in the TP53 gene. 9067756 1997