Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912663
rs121912663
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999

dbSNP: rs121912663
rs121912663
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
0.800 CausalMutation CLINVAR Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999