CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104 1989
dbSNP: rs1057519379
rs1057519379
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1131692181
rs1131692181
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1369821061
rs1369821061
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553630304
rs1553630304
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		TCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC 0.700 CausalMutation CLINVAR
dbSNP: rs1553630507
rs1553630507
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		CC 0.700 CausalMutation CLINVAR
dbSNP: rs1553631860
rs1553631860
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559468403
rs1559468403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1559470315
rs1559470315
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559474364
rs1559474364
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559474966
rs1559474966
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559477241
rs1559477241
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs376393123
rs376393123
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514554
rs397514554
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122907
rs398122907
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587777412
rs587777412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs748294403
rs748294403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs748294403
rs748294403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863224864
rs863224864
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs886039332
rs886039332
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041281
rs886041281
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		TA 0.700 CausalMutation CLINVAR