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Polymorphism Details     
Back Search Methods Disclaimer Credits
 Study: Funke, 2007
 Gene: TBX1  (DGS; TGA; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C)  Entrez Gene
 Protein: T-box 1  (brachyury; Testis-specific T-box protein; T-box 1 transcription factor C)  ProteinLink
 Chromosome: 22   (View: 1  2  3  4  5  6  7  8  9  10  11  12  13  14  15  16  17  18  19  20  21  22  X  Y  MT)
 Status: Updated 9 January 2010
Meta-Analysis     Gene Overview
Total number of polymorphisms investigated by this study: 9

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   G-Allele A-Allele G/G
(frequency)
G/A
(frequency)
A/A
(frequency)
 Caucasian
rs2871042 USA SZ
CTR
0.48
0.47
0.52
0.53
52 (0.230)
96 (0.221)
113 (0.500)
217 (0.499)
61 (0.270)
122 (0.280)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   G-Allele A-Allele G/G
(frequency)
G/A
(frequency)
A/A
(frequency)
 Caucasian
rs885988 USA SZ
CTR
0.49
0.48
0.51
0.52
54 (0.239)
100 (0.229)
113 (0.500)
218 (0.500)
59 (0.261)
118 (0.271)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Caucasian
rs747226 USA SZ
CTR
0.38
0.40
0.62
0.60
33 (0.146)
70 (0.161)
106 (0.469)
209 (0.479)
87 (0.385)
157 (0.360)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   T-Allele C-Allele T/T
(frequency)
T/C
(frequency)
C/C
(frequency)
 Caucasian
rs739374 USA SZ
CTR
0.29
0.26
0.71
0.74
19 (0.084)
29 (0.067)
93 (0.412)
168 (0.385)
114 (0.504)
239 (0.548)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   T-Allele C-Allele T/T
(frequency)
T/C
(frequency)
C/C
(frequency)
 Caucasian
TBX1_V14186 USA SZ
CTR
0.36
0.33
0.64
0.67
29 (0.128)
47 (0.108)
104 (0.460)
193 (0.443)
93 (0.412)
196 (0.450)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   G-Allele C-Allele G/G
(frequency)
G/C
(frequency)
C/C
(frequency)
 Caucasian
rs737868 USA SZ
CTR
0.24
0.33
0.76
0.67
13 (0.058)
47 (0.109)
82 (0.363)
193 (0.446)
131 (0.580)
193 (0.446)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   T-Allele C-Allele T/T
(frequency)
T/C
(frequency)
C/C
(frequency)
 Caucasian
rs2301558 USA SZ
CTR
0.29
0.29
0.71
0.71
19 (0.084)
37 (0.085)
93 (0.412)
180 (0.412)
114 (0.504)
220 (0.503)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Caucasian
rs2238777 USA SZ
CTR
0.45
0.48
0.55
0.52
46 (0.204)
100 (0.229)
112 (0.496)
218 (0.500)
68 (0.301)
118 (0.271)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   G-Allele T-Allele G/G
(frequency)
G/T
(frequency)
T/T
(frequency)
 Caucasian
rs5746826 USA SZ
CTR
0.45
0.49
0.55
0.51
46 (0.204)
105 (0.241)
112 (0.496)
218 (0.500)
68 (0.301)
113 (0.259)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
SZGene Recent Updates
SZGene Stats
Studies: 1727
Genes: 1008
Polymorphisms: 8788
Meta-analyses: 287
ALSGene
AlzGene
MSGene
PDGene
SZGene
An up-to-date collection of all published genetic association studies.
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