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: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the APC gene in malignant melanoma. 15133491

2004
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Genetic and epigenetic alterations of the APC gene in malignant melanoma. 15133491

2004
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 11950921

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. 12124804

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 11950921

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. 11930117

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC. 12124804

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines. 11930117

2002
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304

2001
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304

2001
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390

1999
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390

1999
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403

1997
dbSNP: rs121913409
rs121913409
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403

1997