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Polymorphism Details
Study:
Richards, 2008
Gene:
CLINT1
(ENTH; EPN4; EPNR; CLINT; EPSINR)
Protein:
epsin 4
(enthoprotin; epsin-related protein; clathrin interacting protein localized in the trans-Golgi region)
Chromosome:
5
(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 19 January 2010
Total number of polymorphisms investigated by this study: 16
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)
Asian
rs10046055
Japan
SZ
CTR
0.14
0.17
0.86
0.83
7 (0.020)
10 (0.028)
85 (0.241)
102 (0.282)
261 (0.739)
250 (0.691)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
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)
Asian
rs1145603
Japan
SZ
CTR
0.31
0.32
0.69
0.68
34 (0.096)
37 (0.102)
151 (0.428)
158 (0.435)
168 (0.476)
168 (0.463)
*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)
Asian
rs254664
Japan
SZ
CTR
0.15
0.16
0.85
0.84
8 (0.023)
9 (0.025)
90 (0.255)
97 (0.269)
255 (0.722)
255 (0.706)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
Case-Control Studies (by ethnic group)
Genotypes
Polymorphism ID#
(Link to NCBI)
Population
n.a.-Allele
n.a.-Allele
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
Asian
D5S1403
Japan
SZ
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-)
: Either no data provided, or data otherwise not eligible for inclusion (
see methods for details)
.
Case-Control Studies (by ethnic group)
Genotypes
Polymorphism ID#
(Link to NCBI)
Population
n.a.-Allele
n.a.-Allele
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
Asian
AAAT11 (STR-5')
Japan
SZ
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-)
: Either no data provided, or data otherwise not eligible for inclusion (
see methods for details)
.
Case-Control Studies (by ethnic group)
Genotypes
Polymorphism ID#
(Link to NCBI)
Population
n.a.-Allele
n.a.-Allele
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
n.a./n.a.
(frequency)
Asian
D5S1400
Japan
SZ
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-)
: Either no data provided, or data otherwise not eligible for inclusion (
see methods for details)
.
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)
Asian
rs1186922
Japan
SZ
CTR
0.27
0.25
0.73
0.75
26 (0.074)
23 (0.063)
138 (0.393)
136 (0.375)
187 (0.533)
204 (0.562)
*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)
Asian
rs1186930
Japan
SZ
CTR
0.68
0.68
0.32
0.32
163 (0.463)
168 (0.463)
153 (0.435)
158 (0.435)
36 (0.102)
37 (0.102)
*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)
Asian
rs1186998
Japan
SZ
CTR
0.37
0.38
0.63
0.62
48 (0.136)
52 (0.143)
165 (0.467)
171 (0.471)
140 (0.397)
140 (0.386)
*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)
Asian
rs1145585
Japan
SZ
CTR
0.17
0.16
0.83
0.84
10 (0.028)
9 (0.025)
100 (0.283)
97 (0.269)
243 (0.688)
255 (0.706)
*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)
Asian
rs1145602
Japan
SZ
CTR
0.16
0.16
0.84
0.84
9 (0.026)
9 (0.025)
94 (0.268)
98 (0.270)
248 (0.707)
256 (0.705)
*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)
Asian
rs11744778
Japan
SZ
CTR
0.14
0.16
0.86
0.84
7 (0.020)
9 (0.025)
85 (0.241)
97 (0.269)
261 (0.739)
255 (0.706)
*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)
Asian
rs1186934
Japan
SZ
CTR
0.31
0.32
0.69
0.68
33 (0.095)
37 (0.103)
149 (0.428)
157 (0.436)
166 (0.477)
166 (0.461)
*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)
Asian
rs17055032
Japan
SZ
CTR
0.05
0.07
0.95
0.93
1 (0.003)
2 (0.005)
34 (0.096)
47 (0.129)
319 (0.901)
315 (0.865)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
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)
Asian
rs1894962
Japan
SZ
CTR
0.14
0.12
0.86
0.88
7 (0.020)
5 (0.014)
85 (0.241)
77 (0.212)
260 (0.739)
282 (0.775)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.
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)
Asian
rs7735412
Japan
SZ
CTR
0.02
0.02
0.98
0.98
0 (0.000)
0 (0.000)
14 (0.040)
14 (0.039)
339 (0.960)
349 (0.961)
*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
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