Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55819519
rs55819519
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.010 GeneticVariation BEFREE However, the 14538 G>A (Arg290His) mutation was identified in a family which did not exhibit features consistent with LFS or Li-Fraumeni-like (LFL) syndrome. 17541742

2008