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: rs1057519379
rs1057519379
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
AC 0.700 CausalMutation CLINVAR
dbSNP: rs1057519380
rs1057519380
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1851402
Disease:
Exudative vitreoretinopathy 1
CTAGCTATCGTTCTTTT 0.700 CausalMutation CLINVAR
dbSNP: rs1057519380
rs1057519380
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C4539767
Disease:
EXUDATIVE VITREORETINOPATHY 7
CTAGCTATCGTTCTTTT 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: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0919267
Disease:
ovarian neoplasm
G 0.700 CausalMutation CLINVAR
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206624
Disease:
Hepatoblastoma
G 0.700 CausalMutation CLINVAR
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2675440
Disease:
Desmoid Tumor Caused By Somatic Mutation
G 0.700 CausalMutation CLINVAR
dbSNP: rs121913413
rs121913413
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.700 GeneticVariation UNIPROT
dbSNP: rs1369821061
rs1369821061
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
T 0.700 CausalMutation CLINVAR
dbSNP: rs1413975856
rs1413975856
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.700 GeneticVariation UNIPROT
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: rs1553631896
rs1553631896
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
TA 0.700 CausalMutation CLINVAR
dbSNP: rs1553632357
rs1553632357
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0557874
Disease:
Global developmental delay
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553632357
rs1553632357
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0003466
Disease:
Anus, Imperforate
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553632357
rs1553632357
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0039538
Disease:
Teratoma
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553632357
rs1553632357
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553632357
rs1553632357
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1854882
Disease:
Absent speech
T 0.700 GeneticVariation 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: C0240635
Disease:
Byzanthine arch palate
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559470315
rs1559470315
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1865572
Disease:
Proximal placement of thumb
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559470315
rs1559470315
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0014877
Disease:
Esotropia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559470315
rs1559470315
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1853246
Disease:
Eversion of lower lip
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1559470315
rs1559470315
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0239234
Disease:
Low set ears
T 0.700 GeneticVariation CLINVAR