CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913399
rs121913399
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
C 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913399
rs121913399
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs28931589
rs28931589
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913399
rs121913399
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
dbSNP: rs28931589
rs28931589
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
dbSNP: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0010276
Disease:
Craniopharyngioma
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009