Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		T 0.820 CausalMutation CLINVAR

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 		T 0.820 CausalMutation CLINVAR

dbSNP: rs121913413
rs121913413
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913413
rs121913413
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913407
rs121913407
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 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
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: 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 		T 0.810 CausalMutation CLINVAR

dbSNP: rs748653573
rs748653573
CTNNB1
CUI: C4539767
Disease: EXUDATIVE VITREORETINOPATHY 7
EXUDATIVE VITREORETINOPATHY 7 		T 0.800 CausalMutation CLINVAR

dbSNP: rs28931589
rs28931589
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		A 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28931588
rs28931588
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913413
rs121913413
CTNNB1
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121913412
rs121913412
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913403
rs121913403
CTNNB1
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016