Gene: CTNNB1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163

2005
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163

2005
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163

2005
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282

2014
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282

2014
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282

2014
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Crystal structure of a full-length beta-catenin. 18334222

2008
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Crystal structure of a full-length beta-catenin. 18334222

2008
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Crystal structure of a full-length beta-catenin. 18334222

2008
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1553631783
rs1553631783
CTNNB1
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs797044875
rs797044875
CTNNB1
A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
dbSNP: rs1553631770
rs1553631770
CTNNB1
T 0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014