Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.820 GeneticVariation UNIPROT

dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.820 CausalMutation CLINVAR

dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.820 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.820 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283

2001
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.820 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393

1999
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		T 0.820 CausalMutation CLINVAR

dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		G 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		T 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		A 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		A 0.810 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.810 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.810 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000
dbSNP: rs121913400
rs121913400
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283

2001
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393

1999
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		G 0.810 CausalMutation CLINVAR

dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		T 0.810 CausalMutation CLINVAR

dbSNP: rs121913407
rs121913407
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016