Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555526469
rs1555526469
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
T 0.700 GeneticVariation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010

dbSNP: rs1555526469
rs1555526469
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
G 0.700 GeneticVariation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010