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: rs121913228
rs121913228
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma
C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913228
rs121913228
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma
G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913228
rs121913228
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma
0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
dbSNP: rs121913228
rs121913228
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma
0.800 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372 2000