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Polymorphism Details     
Back Search Methods Disclaimer Credits
 Study: Ingason, 2010
 Gene: AHI1  (ORF1; JBTS3)  Entrez Gene    View on MSGene
 Protein: jouberin  (Ahi-1 isoform I; contatins SH3 and WD40 domains)  ProteinLink
 Chromosome: 6   (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 21 October 2010
Meta-Analysis     Gene Overview
Total number of polymorphisms investigated by this study: 4

Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele A-Allele C/C
(frequency)
C/A
(frequency)
A/A
(frequency)
 Caucasian
rs9321501 Germany (Munich) SZ
CTR
0.57
0.55
0.43
0.45
152 (0.306)
403 (0.317)
261 (0.526)
601 (0.472)
83 (0.167)
268 (0.211)
rs9321501 Denmark (SCOPE) SZ
CTR
0.52
0.53
0.48
0.47
130 (0.288)
276 (0.280)
214 (0.473)
498 (0.506)
108 (0.239)
210 (0.213)
rs9321501 Norway (SCOPE) SZ
CTR
0.52
0.53
0.48
0.47
68 (0.266)
53 (0.312)
129 (0.504)
75 (0.441)
59 (0.230)
42 (0.247)


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
rs11154801 Germany (Munich) SZ
CTR
0.35
0.35
0.65
0.65
55 (0.111)
162 (0.128)
237 (0.478)
574 (0.452)
204 (0.411)
534 (0.420)
rs11154801 UK-Scotland (SGENE+) SZ
CTR
0.35
0.36
0.65
0.64
71 (0.108)
99 (0.150)
314 (0.477)
274 (0.415)
273 (0.415)
288 (0.436)
rs11154801 Germany-Bonn (SGENE+) SZ
CTR
0.35
0.38
0.65
0.62
58 (0.120)
59 (0.161)
226 (0.468)
157 (0.429)
199 (0.412)
150 (0.410)
rs11154801 UK-England (SGENE+) SZ
CTR
0.34
0.35
0.66
0.65
9 (0.097)
7 (0.080)
45 (0.484)
47 (0.534)
39 (0.419)
34 (0.386)
rs11154801 Finland-general (SGENE+) SZ
CTR
0.33
0.32
0.67
0.68
5 (0.085)
14 (0.095)
29 (0.492)
65 (0.442)
25 (0.424)
68 (0.463)
rs11154801 Finland-isolate (SGENE+) SZ
CTR
0.26
0.31
0.74
0.69
7 (0.057)
4 (0.080)
51 (0.415)
23 (0.460)
65 (0.528)
23 (0.460)
rs11154801 Iceland (SGENE+) SZ
CTR
0.31
0.34
0.69
0.66
54 (0.092)
1339 (0.117)
263 (0.447)
5082 (0.442)
272 (0.462)
5070 (0.441)
rs11154801 Italy (SGENE+) SZ
CTR
0.37
0.32
0.63
0.68
12 (0.143)
11 (0.124)
38 (0.452)
35 (0.393)
34 (0.405)
43 (0.483)
rs11154801 Netherlands (SGENE+) SZ
CTR
0.33
0.38
0.67
0.62
66 (0.093)
87 (0.135)
344 (0.482)
318 (0.495)
303 (0.425)
238 (0.370)


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
rs2064430 UK-Scotland (SGENE+) SZ
CTR
0.57
0.56
0.43
0.44
215 (0.327)
212 (0.321)
322 (0.490)
312 (0.472)
120 (0.183)
137 (0.207)
rs2064430 Germany-Bonn (SGENE+) SZ
CTR
0.54
0.51
0.46
0.49
147 (0.304)
109 (0.297)
231 (0.478)
160 (0.436)
105 (0.217)
98 (0.267)
rs2064430 UK-England (SGENE+) SZ
CTR
0.60
0.53
0.40
0.47
34 (0.374)
24 (0.279)
42 (0.462)
44 (0.512)
15 (0.165)
18 (0.209)
rs2064430 Finland-general (SGENE+) SZ
CTR
0.58
0.61
0.42
0.39
18 (0.305)
52 (0.354)
32 (0.542)
74 (0.503)
9 (0.153)
21 (0.143)
rs2064430 Finland-isolate (SGENE+) SZ
CTR
0.60
0.55
0.40
0.45
44 (0.364)
14 (0.286)
57 (0.471)
26 (0.531)
20 (0.165)
9 (0.184)
rs2064430 Iceland (SGENE+) SZ
CTR
0.56
0.53
0.44
0.47
184 (0.313)
3186 (0.278)
291 (0.495)
5704 (0.498)
113 (0.192)
2564 (0.224)
rs2064430 Italy (SGENE+) SZ
CTR
0.56
0.62
0.44
0.38
26 (0.310)
36 (0.404)
42 (0.500)
39 (0.438)
16 (0.190)
14 (0.157)
rs2064430 Netherlands (SGENE+) SZ
CTR
0.57
0.52
0.43
0.48
229 (0.321)
164 (0.256)
361 (0.506)
341 (0.532)
123 (0.173)
136 (0.212)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele A-Allele C/C
(frequency)
C/A
(frequency)
A/A
(frequency)
 Caucasian
rs2757649 UK (Cardiff) SZ
CTR
0.58
0.56
0.42
0.44
167 (0.349)
914 (0.311)
221 (0.461)
1447 (0.493)
91 (0.190)
575 (0.196)
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Studies: 1727
Genes: 1008
Polymorphisms: 8788
Meta-analyses: 287
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