CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0027708
Disease:
Nephroblastoma
0.010 GeneticVariation BEFREE Three mutations, Ser45Phe (TCT --> TTT), Ser45Tyr (TCT --> TAT), and Delta45 (deletion of TCT), were found in 3 of 19 unilateral WTs. 12239584 2002