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Polymorphism Details     
Back Search Methods Disclaimer Credits
 Study: Jungerius, 2007
 Gene: PAX3  (WS1; CDHS; HUP2)  Entrez Gene
 Protein: paired box 3  (PAX3/FKHR fusion; paired domain gene 3; Waardenburg syndrome 1; paired domain gene HuP2; paired box homeotic gene 3; paired box gene 3 (Waardenburg syndrome 1))  ProteinLink
 Chromosome: 2   (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 13 February 2008
Meta-Analysis     Gene Overview
Total number of polymorphisms investigated by this study: 12

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
rs1367414 Netherlands SZ
CTR
0.45
0.40
0.55
0.60
64 (0.206)
85 (0.163)
154 (0.495)
251 (0.483)
93 (0.299)
184 (0.354)
*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
rs6436310 Netherlands SZ
CTR
0.52
0.48
0.48
0.52
85 (0.274)
119 (0.229)
155 (0.500)
259 (0.498)
70 (0.226)
142 (0.273)
*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 C-Allele A/A
(frequency)
A/C
(frequency)
C/C
(frequency)
 Caucasian
rs10498133 Netherlands SZ
CTR
0.06
0.08
0.94
0.92
1 (0.003)
3 (0.006)
37 (0.119)
77 (0.148)
272 (0.877)
439 (0.846)
*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
rs7609007 Netherlands SZ
CTR
0.12
0.10
0.88
0.90
5 (0.016)
5 (0.010)
67 (0.215)
95 (0.183)
239 (0.768)
419 (0.807)
*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
rs7608595 Netherlands SZ
CTR
0.39
0.43
0.61
0.57
48 (0.155)
95 (0.183)
148 (0.479)
254 (0.488)
113 (0.366)
171 (0.329)
*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
rs1367410 Netherlands SZ
CTR
0.50
0.46
0.50
0.54
76 (0.246)
111 (0.214)
154 (0.498)
258 (0.498)
79 (0.256)
149 (0.288)
*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
rs1367415 Netherlands SZ
CTR
0.14
0.16
0.86
0.84
6 (0.019)
13 (0.025)
76 (0.246)
139 (0.268)
227 (0.735)
366 (0.707)
*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
rs2276630 Netherlands SZ
CTR
0.16
0.18
0.84
0.82
8 (0.026)
17 (0.033)
85 (0.274)
153 (0.294)
217 (0.700)
351 (0.674)
*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
rs1430657 Netherlands SZ
CTR
0.17
0.19
0.83
0.81
9 (0.029)
18 (0.035)
88 (0.284)
157 (0.301)
213 (0.687)
346 (0.664)
*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
rs1367408 Netherlands SZ
CTR
0.21
0.20
0.79
0.80
14 (0.045)
20 (0.038)
103 (0.332)
165 (0.317)
193 (0.623)
335 (0.644)
*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
rs4674641 Netherlands SZ
CTR
0.23
0.23
0.77
0.77
16 (0.051)
28 (0.054)
108 (0.347)
185 (0.356)
187 (0.601)
306 (0.590)
*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
rs1978859 Netherlands SZ
CTR
0.32
0.32
0.68
0.68
31 (0.101)
51 (0.101)
133 (0.433)
220 (0.434)
143 (0.466)
236 (0.465)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
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Studies: 1727
Genes: 1008
Polymorphisms: 8788
Meta-analyses: 287
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