Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.050 GeneticVariation BEFREE Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. 30974190

2019

dbSNP: rs121912664
rs121912664
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.050 GeneticVariation BEFREE In conclusion, our results suggest that MDM2 SNP 309 may contribute to the LFL phenotype and also to an earlier age at diagnosis of ACC and BC cancer in carriers of the R337H founder mutation. 28756477

2018

dbSNP: rs121912664
rs121912664
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.050 GeneticVariation BEFREE The systematic review of literature was performed on 12 selected articles, describing a total of 175,462 individuals tested for the R337H mutation, including 1548 individuals with cancer and 118 individuals with a family history of Li-Fraumeni and Li-Fraumeni-like syndrome. 26681051

2015

dbSNP: rs121912664
rs121912664
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.050 GeneticVariation BEFREE Family history was consistent with an LFL tumour pattern, and genotyping identified the TP53 p.R337H mutation in both alleles in genomic DNA from lymphocytes and fibroblasts. 23570263

2013

dbSNP: rs121912664
rs121912664
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome
0.050 GeneticVariation BEFREE Family history of cancer (with 2 or more cancer cases) was exclusively identified on the parental side segregating the R337H mutation, and 50% (7/14) of them were compatible with Li-Fraumeni-like syndrome. 21445348

2011