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Printable version  
Polymorphism Details     
Back Search Methods Disclaimer Credits
 Study: Talkowski, 2008
 Gene: PAH  (PKU; PKU1)  Entrez Gene    View on MSGene
 Protein: phenylalanine hydroxylase  (amino acid hydroxylase)  ProteinLink
 Chromosome: 12   (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 30 October 2008
Meta-Analysis     Gene Overview
Total number of polymorphisms investigated by this study: 18

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)
 African Descent
PAH_K274E USA SZ
CTR		 0.01
0.02		 0.99
0.98		 0 (0.000)
0 (0.000)		 16 (0.030)
17 (0.044)		 523 (0.970)
369 (0.956)


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
rs1522296 USA SZ
CTR		 0.29
0.31		 0.71
0.69		 20 (0.087)
47 (0.099)		 95 (0.413)
204 (0.430)		 115 (0.500)
223 (0.470)


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
rs10778209 USA SZ
CTR		 0.24
0.25		 0.76
0.75		 13 (0.056)
29 (0.061)		 83 (0.359)
177 (0.374)		 135 (0.584)
267 (0.564)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele T-Allele A/A
(frequency)		 A/T
(frequency)		 T/T
(frequency)
 Caucasian
rs10860935 USA SZ
CTR		 0.15
0.13		 0.85
0.87		 5 (0.022)
8 (0.017)		 59 (0.257)
109 (0.230)		 166 (0.722)
357 (0.753)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   C-Allele G-Allele C/C
(frequency)		 C/G
(frequency)		 G/G
(frequency)
 Caucasian
rs1522305 USA SZ
CTR		 0.10
0.16		 0.90
0.84		 2 (0.009)
12 (0.025)		 42 (0.183)
125 (0.264)		 185 (0.808)
337 (0.711)


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
rs1722392 USA SZ
CTR		 0.46
0.44		 0.54
0.56		 49 (0.213)
93 (0.196)		 114 (0.496)
234 (0.493)		 67 (0.291)
148 (0.312)


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
rs2037639 USA SZ
CTR		 0.27
0.26		 0.73
0.74		 16 (0.070)
33 (0.070)		 90 (0.391)
183 (0.386)		 124 (0.539)
258 (0.544)


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
rs1126758 USA SZ
CTR		 0.44
0.42		 0.56
0.58		 45 (0.196)
83 (0.175)		 114 (0.496)
231 (0.486)		 71 (0.309)
161 (0.339)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele A-Allele T/T
(frequency)		 T/A
(frequency)		 A/A
(frequency)
 Caucasian
rs12312872 USA SZ
CTR		 0.14
0.18		 0.86
0.82		 5 (0.022)
16 (0.034)		 56 (0.243)
141 (0.297)		 169 (0.735)
317 (0.669)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele A-Allele T/T
(frequency)		 T/A
(frequency)		 A/A
(frequency)
 Caucasian
rs937476 USA SZ
CTR		 0.41
0.43		 0.59
0.57		 39 (0.170)
86 (0.181)		 112 (0.487)
232 (0.488)		 79 (0.343)
157 (0.331)


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
rs1042503 USA SZ
CTR		 0.29
0.27		 0.71
0.73		 19 (0.083)
35 (0.074)		 94 (0.409)
188 (0.397)		 117 (0.509)
251 (0.530)


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
rs1722387 USA SZ
CTR		 0.16
0.15		 0.84
0.85		 6 (0.026)
10 (0.021)		 61 (0.265)
118 (0.248)		 163 (0.709)
347 (0.731)


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
rs12425434 USA SZ
CTR		 0.29
0.28		 0.71
0.72		 19 (0.082)
36 (0.076)		 94 (0.407)
190 (0.401)		 118 (0.511)
248 (0.523)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   C-Allele G-Allele C/C
(frequency)		 C/G
(frequency)		 G/G
(frequency)
 Caucasian
rs772897 USA SZ
CTR		 0.16
0.15		 0.84
0.85		 6 (0.026)
11 (0.023)		 61 (0.265)
122 (0.257)		 163 (0.709)
341 (0.719)


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
rs2245360 USA SZ
CTR		 0.36
0.36		 0.64
0.64		 29 (0.126)
62 (0.131)		 106 (0.461)
219 (0.462)		 95 (0.413)
193 (0.407)


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
rs1801153 USA SZ
CTR		 0.19
0.21		 0.81
0.79		 8 (0.035)
22 (0.046)		 71 (0.309)
159 (0.335)		 151 (0.657)
294 (0.619)


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)
 African Descent
PAH_L321L USA SZ
CTR		 0.05
0.07		 0.95
0.93		 2 (0.004)
0 (0.000)		 52 (0.097)
57 (0.149)		 483 (0.899)
326 (0.851)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   C-Allele T-Allele C/C
(frequency)		 C/T
(frequency)		 T/T
(frequency)
 African Descent
PAH_N426N USA SZ
CTR		 0.15
0.13		 0.85
0.87		 9 (0.017)
9 (0.024)		 138 (0.259)
83 (0.219)		 386 (0.724)
287 (0.757)


Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs1522296 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1522296 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1522296 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1522296 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs10778209 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs10778209 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs10778209 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs10778209 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele T-Allele A/A
(frequency)		 A/T
(frequency)		 T/T
(frequency)
 African Descent
rs10860935 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs10860935 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs10860935 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs10860935 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   C-Allele G-Allele C/C
(frequency)		 C/G
(frequency)		 G/G
(frequency)
 African Descent
rs1522305 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1522305 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1522305 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1522305 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele C-Allele T/T
(frequency)		 T/C
(frequency)		 C/C
(frequency)
 African Descent
rs1722392 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1722392 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1722392 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1722392 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs2037639 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs2037639 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs2037639 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs2037639 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   G-Allele A-Allele G/G
(frequency)		 G/A
(frequency)		 A/A
(frequency)
 African Descent
rs1126758 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1126758 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1126758 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1126758 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele A-Allele T/T
(frequency)		 T/A
(frequency)		 A/A
(frequency)
 African Descent
rs12312872 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs12312872 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs12312872 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs12312872 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele A-Allele T/T
(frequency)		 T/A
(frequency)		 A/A
(frequency)
 African Descent
rs937476 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs937476 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs937476 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs937476 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs1042503 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1042503 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1042503 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1042503 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs1722387 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1722387 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1722387 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1722387 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   T-Allele C-Allele T/T
(frequency)		 T/C
(frequency)		 C/C
(frequency)
 African Descent
rs12425434 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs12425434 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs12425434 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs12425434 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   C-Allele G-Allele C/C
(frequency)		 C/G
(frequency)		 G/G
(frequency)
 African Descent
rs772897 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs772897 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs772897 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs772897 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs2245360 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs2245360 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs2245360 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs2245360 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele G-Allele A/A
(frequency)		 A/G
(frequency)		 G/G
(frequency)
 African Descent
rs1801153 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
 Caucasian
rs1801153 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1801153 USA SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
rs1801153 Bulgaria SZ
CTR		 -
-		 -
-		 0 (-)
0 (-)		 0 (-)
0 (-)		 0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
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