Table 4 |
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|
Associations between SNP alleles with minor allele frequencies and eye colour categorised from photos of 107 Scots from Edinburgh. |
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|
Gene |
Chr |
SNP |
positiona |
Min A |
MAFb |
Ranked Eye colours |
Shades |
Brown vs blue |
Brown vs other |
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|
|
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|
p-values |
p-values |
OR |
p-values |
OR |
p-values |
OR |
||||||
|
|
||||||||||||
|
HPS3 |
3 |
rs7643410 |
int 1 |
G |
0.08 |
0.04 |
2.9 |
|||||
|
rs2254913 |
int 5.1 |
A |
0.37 |
0.006 |
0.03 |
1.7 |
0.003 |
2.6 |
0.01 |
1.9 |
||
|
rs2689229 |
int 5.2 |
A |
0.46 |
0.01 |
0.02 |
1.8 |
0.004 |
2.5 |
||||
|
rs2689230 |
int 5.3 |
G |
0.23 |
0.04 |
0.046 |
2.2 |
0.02 |
2.6 |
0.04 |
2.1 |
||
|
rs2689234 |
int 6 |
G |
0.49 |
0.03 |
0.009 |
2.3 |
||||||
|
rs6785780 |
int 8 |
T |
0.41 |
0.03 |
0.02 |
2.3 |
||||||
|
rs2681092 |
int 15 |
T |
0.38 |
0.02 |
0.01 |
2.3 |
0.04 |
0.5 |
||||
|
|
||||||||||||
|
KIT |
4 |
rs17084733 |
3' UTR |
A |
0.11 |
0.02 |
4.3 |
0.04 |
3.6 |
|||
|
|
||||||||||||
|
DTNBP1 |
6 |
rs9476886 |
int 1 |
T |
0.28 |
0.04 |
2.4 |
|||||
|
|
||||||||||||
|
ERCC8 |
5 |
rs4647128 |
int 10 |
G |
0.03 |
0.04 |
0.02 |
6.1 |
||||
|
|
||||||||||||
|
rs4235483 |
int 9 |
A |
0.44 |
0.04 |
1.7 |
|||||||
|
|
||||||||||||
|
ERCC6 |
10 |
rs4253231 |
3'UTR |
C |
0.09 |
0.007 |
0.003 |
3.6 |
0.08 |
2.8 |
0.01 |
3.0 |
|
|
||||||||||||
|
CYP2C8 |
10 |
rs11572177 |
int 8 |
G |
0.30 |
0.04 |
1.9 |
|||||
|
|
||||||||||||
|
DCT |
13 |
rs9584233 |
int 6 |
T |
0.11 |
0.03 |
3.4 |
0.03 |
2.4 |
|||
|
|
||||||||||||
|
OCA2 |
15 |
rs7495174 |
int 1.1 |
G |
0.05 |
0.001d |
0.006 |
6.3 |
0.003 |
NA |
0.009 |
5.9 |
|
rs7174027 |
int 1.2 |
A |
0.06 |
0.009 |
3.1 |
0.003 |
NA |
0.03 |
3.3 |
|||
|
|
||||||||||||
|
rs7179994 |
int 2.1 |
G |
0.14 |
0.03 |
0.03 |
3.1 |
0.04 |
2.3 |
||||
|
rs1597196 |
int 2.2 |
T |
0.15 |
0.008 |
0.03 |
2.0 |
0.008 |
3.6 |
0.02 |
2.4 |
||
|
rs1470608 |
int 2.3 |
A |
0.10 |
0.046 |
2.3 |
|||||||
|
rs12324648 |
int 2.4 |
A |
0.07 |
0.006 |
0.04 |
2.9 |
0.009 |
5.2 |
0.004 |
4.1 |
||
|
|
||||||||||||
|
rs3794604 |
int 4 |
A |
0.08 |
0.03 |
2.5 |
0.04 |
3.8 |
0.006 |
3.7 |
|||
|
|
||||||||||||
|
rs746861 |
int 6 |
C |
0.45 |
0.02 |
1.8 |
|||||||
|
|
||||||||||||
|
rs7176632 |
int 16 |
T |
0.18 |
0.0003 |
0.0008 |
2.9 |
0.0008 |
5.0 |
0.01 |
2.3 |
||
|
|
||||||||||||
|
rs7173419 |
int 18.1 |
T |
0.27 |
0.01 |
0.02 |
2.1 |
0.046 |
2.2 |
||||
|
rs2594938 |
int 18.2 |
C |
0.26 |
0.01 |
0.02 |
2.0 |
0.02 |
2.3 |
||||
|
rs1562592 |
int 18.3 |
T |
0.17 |
5.21 × 10-5d |
4.12 × 10-5d |
3.7 |
0.0009 |
4.2 |
0.0009 |
2.9 |
||
|
rs1448490 |
int 18.4 |
A |
0.16 |
0.03 |
0.02 |
2.8 |
0.009 |
7.0 |
0.002 |
8.6 |
||
|
|
||||||||||||
|
rs17674017 |
int 23.1 |
G |
0.42 |
0.008 |
0.04 |
1.9 |
0.03 |
2.2 |
||||
|
rs1498509 |
int 23.2 |
C |
0.49 |
0.03 |
0.04 |
2.0 |
||||||
|
rs11631195 |
int 23.3 |
A |
0.37 |
0.04 |
0.04 |
2.0 |
||||||
|
rs989869 |
int 23.4 |
C |
0.38 |
0.02 |
||||||||
|
rs1603784 |
int 23.5 |
A |
0.23 |
0.01 |
0.03 |
2.6 |
||||||
|
rs11074304c |
int 23.6 |
A |
0.42 |
0.04 |
0.04 |
2.2 |
||||||
|
|
||||||||||||
|
GNAS |
20 |
rs4810147 |
int 1 |
A |
0.49 |
0.02 |
0.004 |
2.6 |
0.04 |
1.8 |
||
|
|
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|
a: Intron (Int), Exon or Untranslated region (UTR) position in the gene b: Minor allele frequency (MAF) c: alleles slightly out of Hardy Weinberg Equilibrium d: Significant using Bonferroni correction. Other p-values were corrected by empirical permutation e: Significant association in Duffy et al. 2006 NA: No answer. Only observed among individuals with brown eye colour |
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|
Mengel-From et al. BMC Genetics 2009 10:88 doi:10.1186/1471-2156-10-88 |
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