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Table 4 Associations between SNP alleles with minor allele frequencies and eye colour categorised from photos of 107 Scots from Edinburgh.

From: Genetic determinants of hair and eye colours in the Scottish and Danish populations

Gene Chr SNP positiona Min A MAFb Ranked Eye colours Shades Brown vs blue Brown vs other
       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
  1. a: Intron (Int), Exon or Untranslated region (UTR) position in the gene
  2. b: Minor allele frequency (MAF)
  3. c: alleles slightly out of Hardy Weinberg Equilibrium
  4. d: Significant using Bonferroni correction. Other p-values were corrected by empirical permutation
  5. e: Significant association in Duffy et al. 2006
  6. NA: No answer. Only observed among individuals with brown eye colour
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BMC Genomic Data

ISSN: 2730-6844

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