rs12165908
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Coronary heart disease
0.010
GeneticVariation
BEFREE
Genotype analyses revealed that minor alleles in <i>TBX1</i>: rs12165908 C > G [odds ratio (OR) = 2.64; 95% confidence interval (CI) = 1.87-3.73, <i>p</i> = 3.03 × 10<sup>-8</sup>] and <i>GATA6</i>: rs143085291 C > T (OR = 2.49; 95% CI = 1.18-5.29, <i>p</i> = 0.01) increased CHD risk significantly.
31013439
2019
rs1274480565
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Situs ambiguus
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val ) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy .
23427188
2013
rs1274480565
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Double Outlet Right Ventricle
0.010
GeneticVariation
BEFREE
Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV , c.98C > T (Ala33Val ) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy.
23427188
2013
rs1329122220
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Obesity
0.010
GeneticVariation
BEFREE
Even though transmission disequilibrium test (TDT) further supported the association of P352T and +2,004 -/inst T with obesity , none of these nominal associations remained significant after a multiple testing Bonferroni correction.
20075856
2010
rs1445910672
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Tetralogy of Fallot
A
0.700
GeneticVariation
CLINVAR
rs1555895466
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
DiGeorge Syndrome
T
0.700
CausalMutation
CLINVAR
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Practical guidelines for managing adults with 22q11.2 deletion syndrome.
25569435
2015
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
1349199
1992
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
24998776
2014
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
17273972
2007
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
11748311
2001
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
27617111
2015
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.
26884814
2016
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Velo-cardio-facial syndrome: 30 Years of study.
18636631
2008
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.
23996541
2013
rs1555896474
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Dysmorphic features
G
0.700
CausalMutation
CLINVAR
22q11 deletion syndrome: current perspective.
26056486
2015
rs1978060
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
31417091
2019
rs1978060
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Adolescent idiopathic scoliosis
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
31417091
2019
rs2238776
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Interleukin 10 Measurement
A
0.700
GeneticVariation
GWASCAT
Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African Americans.
22205395
2012
rs2238776
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Prostate carcinoma
G
0.700
GeneticVariation
GWASCAT
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
25217961
2014
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.700
GeneticVariation
UNIPROT
Role of TBX1 in human del22q11.2 syndrome.
14585638
2003
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Shprintzen syndrome
0.700
GeneticVariation
UNIPROT
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
17273972
2007
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
CONOTRUNCAL HEART MALFORMATIONS (disorder)
0.700
GeneticVariation
UNIPROT
rs28939675
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
A
0.700
CausalMutation
CLINVAR
rs41297816
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
Schizophrenia
G
0.700
GeneticVariation
GWASCAT
Genome-wide association study of schizophrenia in Ashkenazi Jews.
26198764
2015