Table 1.
CHR | SNP | BP (Build 37) | Nearest Gene(s)† | A1 †† | A2 | Freq A1 | Phenotype | Beta | SE | p | |
---|---|---|---|---|---|---|---|---|---|---|---|
2 | rs744653 | 190,378,750 | WDR75 – SLC40A1 | T | C | 0.854 | Iron | D | −0.002 | 0.014 | 0.902 |
D+R | 0.004 | 0.010 | 0.702 | ||||||||
Transferrin | D | 0.092 | 0.014 | 2.00 × 10−10 | |||||||
D+R | 0.068 | 0.010 | 1.35 × 10−11 | ||||||||
Saturation | D | −0.037 | 0.014 | 0.0087 | |||||||
D+R | −0.028 | 0.011 | 0.0084 | ||||||||
Ferritin (log) | D | −0.098 | 0.013 | 1.20 × 10−13 | |||||||
D+R | −0.089 | 0.010 | 8.37 × 10−19 | ||||||||
3 | rs8177240 | 133,477,701 | TF | T | G | 0.669 | Iron | D | −0.073 | 0.011 | 2.37 × 10−12 |
D+R | −0.066 | 0.007 | 6.65 × 10−20 | ||||||||
Transferrin | D | −0.423 | 0.011 | 3.82 × 10−340 | |||||||
D+R | −0.380 | 0.007 | 3.29 × 10−615 | ||||||||
Saturation | D | 0.097 | 0.011 | 5.85 × 10−20 | |||||||
D+R | 0.100 | 0.008 | 7.24 × 10−38 | ||||||||
Ferritin (log) | D | 0.028 | 0.010 | 0.0050 | |||||||
D+R | 0.021 | 0.007 | 0.0039 | ||||||||
3 | rs9990333 | 195,827,205 | TFRC | T | C | 0.460 | Iron | D | 0.021 | 0.010 | 0.030 |
D+R | 0.017 | 0.007 | 0.014 | ||||||||
Transferrin | D | −0.067 | 0.010 | 3.01 × 10−11 | |||||||
D+R | −0.051 | 0.007 | 1.95 × 10−13 | ||||||||
Saturation | D | 0.049 | 0.010 | 7.37 × 10−7 | |||||||
D+R | 0.039 | 0.007 | 7.28 × 10−8 | ||||||||
Ferritin (log) | D | 0.002 | 0.009 | 0.829 | |||||||
D+R | 0.001 | 0.007 | 0.878 | ||||||||
6 | rs1800562 | 26,093,141 | HFE | A | G | 0.067 | Iron | D | 0.372 | 0.020 | 3.96 × 10−77 |
(C282Y) | D+R | 0.328 | 0.016 | 2.72 × 10−97 | |||||||
Transferrin | D | −0.550 | 0.021 | 1.26 × 10−153 | |||||||
D+R | −0.479 | 0.016 | 8.90 × 10−196 | ||||||||
Saturation | D | 0.577 | 0.020 | 1.52 × 10−178 | |||||||
D+R | 0.577 | 0.016 | 2.19 × 10−270 | ||||||||
Ferritin (log) | D | 0.211 | 0.019 | 1.43 × 10−29 | |||||||
D+R | 0.204 | 0.016 | 1.54 × 10−38 | ||||||||
6 | rs1799945 | 26,091,179 | HFE (H63D) | C | G | 0.850 | Iron | D | −0.190 | 0.014 | 1.65 × 10−42 |
D+R | −0.189 | 0.010 | 1.10 × 10−81 | ||||||||
Transferrin | D | 0.119 | 0.014 | 5.59 × 10−17 | |||||||
D+R | 0.114 | 0.010 | 9.36 × 10−30 | ||||||||
Saturation | D | −0.228 | 0.014 | 2.98 × 10−60 | |||||||
D+R | −0.231 | 0.010 | 5.13 × 10−109 | ||||||||
Ferritin (log) | D | −0.059 | 0.013 | 7.38 × 10−6 | |||||||
D+R | −0.065 | 0.010 | 1.71 × 10−10 | ||||||||
7 | rs7385804 | 100,235,970 | TFR2 | A | C | 0.621 | Iron | D | 0.055 | 0.010 | 7.19 × 10−8 |
D+R | 0.064 | 0.007 | 1.36 × 10−18 | ||||||||
Transferrin | D | −0.009 | 0.011 | 0.396 | |||||||
D+R | −0.003 | 0.007 | 0.728 | ||||||||
Saturation | D | 0.054 | 0.010 | 1.79 × 10−7 | |||||||
D+R | 0.054 | 0.008 | 6.07 × 10−12 | ||||||||
Ferritin (log) | D | 0.022 | 0.010 | 0.0255 | |||||||
D+R | 0.015 | 0.007 | 0.039 | ||||||||
8 | rs4921915 | 18,272,466 | NAT2 | A | G | 0.782 | Iron | D | −0.009 | 0.012 | 0.477 |
D+R | 0.004 | 0.009 | 0.633 | ||||||||
Transferrin | D | 0.082 | 0.012 | 1.74 × 10−11 | |||||||
D+R | 0.079 | 0.009 | 7.05 × 10−19 | ||||||||
Saturation | D | −0.034 | 0.012 | 0.0041 | |||||||
D+R | −0.026 | 0.009 | 0.0036 | ||||||||
Ferritin (log) | D | −0.006 | 0.011 | 0.603 | |||||||
D+R | 0.001 | 0.009 | 0.886 | ||||||||
9 | rs651007 | 136,153,875 | ABO | T | C | 0.202 | Iron | D | −0.012 | 0.013 | 0.358 |
D+R | −0.004 | 0.009 | 0.611 | ||||||||
Transferrin | D | 0.017 | 0.013 | 0.188 | |||||||
D+R | −0.001 | 0.009 | 0.916 | ||||||||
Saturation | D | −0.020 | 0.013 | 0.110 | |||||||
D+R | −0.006 | 0.009 | 0.498 | ||||||||
Ferritin (log) | D | −0.060 | 0.012 | 2.54 × 10−7 | |||||||
D+R | −0.050 | 0.009 | 1.31 × 10−8 | ||||||||
11 | rs6486121 | 13,355,770 | ARNTL | T | C | 0.631 | Iron | D | 0.001 | 0.010 | 0.898 |
D+R | −0.009 | 0.007 | 0.202 | ||||||||
Transferrin | D | −0.056 | 0.011 | 1.04 × 10−7 | |||||||
D+R | −0.046 | 0.007 | 3.89 × 10−10 | ||||||||
Saturation | D | 0.026 | 0.010 | 0.0132 | |||||||
D+R | 0.015 | 0.008 | 0.048 | ||||||||
Ferritin (log) | D | 0.012 | 0.010 | 0.2298 | |||||||
D+R | 0.006 | 0.007 | 0.424 | ||||||||
11 | rs174577 | 61,604,814 | FADS2 | A | C | 0.330 | Iron | D | 0.003 | 0.011 | 0.785 |
D+R | 0.001 | 0.007 | 0.878 | ||||||||
Transferrin | D | 0.068 | 0.011 | 1.90 × 10−10 | |||||||
D+R | 0.062 | 0.007 | 2.28 × 10−17 | ||||||||
Saturation | D | −0.023 | 0.011 | 0.029 | |||||||
D+R | −0.025 | 0.008 | 0.0016 | ||||||||
Ferritin (log) | D | −0.020 | 0.010 | 0.040 | |||||||
D+R | −0.012 | 0.007 | 0.098 | ||||||||
17 | rs411988 | 56,709,034 | TEX14 | A | G | 0.564 | Iron | D | −0.007 | 0.010 | 0.4673 |
D+R | −0.002 | 0.007 | 0.770 | ||||||||
Transferrin | D | 0.033 | 0.010 | 0.0012 | |||||||
D+R | 0.014 | 0.007 | 0.052 | ||||||||
Saturation | D | −0.021 | 0.010 | 0.036 | |||||||
D+R | −0.012 | 0.007 | 0.115 | ||||||||
Ferritin (log) | D | −0.049 | 0.009 | 1.28 × 10−7 | |||||||
D+R | −0.044 | 0.007 | 1.59 × 10−10 | ||||||||
22 | rs855791 | 37,462,936 | TMPRSS6 | A | G | 0.446 | Iron | D | −0.187 | 0.010 | 4.31 × 10−77 |
(V736A) | D+R | −0.181 | 0.007 | 1.32 × 10−139 | |||||||
Transferrin | D | 0.040 | 0.010 | 0.00013 | |||||||
D+R | 0.044 | 0.007 | 1.98 × 10−9 | ||||||||
Saturation | D | −0.192 | 0.010 | 3.50 × 10−80 | |||||||
D+R | −0.190 | 0.008 | 6.41 × 10−137 | ||||||||
Ferritin (log) | D | −0.051 | 0.010 | 5.81 × 10−8 | |||||||
D+R | −0.055 | 0.007 | 1.38 × 10−14 | ||||||||
Conditional analysis | |||||||||||
3 | rs8177179 | 133,463,457 | TF | A | G | 0.521 | Transferrin | D | −0.154 | 0.010 | 2.74 × 10−49 |
3 | rs1799852 | 133,475,722 | TF ((L247L) | T | C | 0.098 | Saturation | D | 0.110 | 0.019 | 7.13 × 10−9 |
22 | rs228916 | 37,505,552 | TMPRSS6 | T | C | 0.875 | Iron | D | −0.086 | 0.016 | 2.94 × 10−8 |
Where the SNP is a coding variant, the amino acid change is also shown.
A1 is the effect allele for each SNP in the association analysis.