Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913228
rs121913228
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913228
rs121913228
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913228
rs121913228
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456

2002
dbSNP: rs121913228
rs121913228
CTNNB1
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.800 GeneticVariation UNIPROT APC mutations in sporadic medulloblastomas. 10666372

2000