Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934578
rs28934578
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs28934578
rs28934578
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs28934578
rs28934578
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 GeneticVariation BEFREE These findings suggest that p53-R175L retains sufficient activity to suppress LFS, but not adrenal cortical carcinoma. 16707427

2006
dbSNP: rs28934578
rs28934578
TP53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR The IARC TP53 database: new online mutation analysis and recommendations to users. 12007217

2002