Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

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

2017

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

2017

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

2017

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

2017

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

2017

dbSNP: rs1553631770
rs1553631770
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: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1553631783
rs1553631783
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: rs1553631783
rs1553631783
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs797044875
rs797044875
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: rs797044875
rs797044875
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

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

2014

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

dbSNP: rs1553631783
rs1553631783
A 0.700 CausalMutation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014

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

2014

dbSNP: rs1553631783
rs1553631783
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
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: rs797044875
rs797044875
A 0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014

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

2014

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013

dbSNP: rs1553631783
rs1553631783
A 0.700 CausalMutation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013

dbSNP: rs797044875
rs797044875
A 0.700 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012