TABLE 2.
APOH SNP positions and minor allele frequencies in African Americans, Mexican Americans, and European Americans
MAF
|
||||||
---|---|---|---|---|---|---|
Position | Reference | Allele | Functional Location | AA | MA | EA |
−1283 | rs8178818 | C/G | Promoter | 0 | 0.020 | 0.002 |
−1218 | rs8178819 | G/A | Promoter | 0.012 | 0.025 | 0.080 |
−1054 | rs8178897 | T/G | Promoter | 0.011 | 0 | 0 |
−758 | rs8178820 | A/G | Promoter | 0.051 | 0.090 | 0.266 |
−700 | rs3760291 | C/A | Promoter | 0.064 | 0.085 | 0.257 |
−643 | hcv268405 | T/C | Promoter | 0.123 | 0.234 | 0.133 |
−627 | rs8178898 | A/C | Promoter | 0.039 | 0.005 | 0 |
−581 | rs8178899 | A/C | Promoter | 0.051 | 0.008 | 0.001 |
−32 | rs8178822 | C/A | 5′ UTR | 0.058 | 0.042 | 0.069 |
71 | rs8178901 | C/T | Splicing | 0.047 | 0.001 | 0 |
3333a | rs8178833 | G/A | Ser88Asn | 0.014 | 0.027 | 0.041 |
5247 | rs8178835 | T/C | Intron 3 | 0.439 | 0.452 | 0.227 |
5956 | rs8178838 | A/G | Intron 4 | 0.081 | 0.050 | 0.072 |
6482 | rs3785617 | A/G | Intron 4 | 0.267 | 0.172 | 0.378 |
8627 | reference 14 | A/C | Splicing | 0.080 | 0.049 | 0.070 |
8643a | rs1803122 | T/C | Ile122Thr | 0.083 | 0.048 | 0.069 |
8682a | rs8178847 | G/A | Arg135His | 0.084 | 0.050 | 0.070 |
8698 | rs8178925 | A/G | Ser140Ser | 0.010 | 0 | 0 |
8700a | reference 14 | C/A | Ala141Asp | 0.019 | 0 | 0 |
8853 | hcv265411 | T/C | Intron 5 | 0.119 | 0.360 | 0.393 |
8906 | rs8178926 | G/A | Intron 5 | 0.059 | 0 | 0 |
9926 | rs2215415 | T/C | Intron 5 | 0.132 | 0.360 | 0.395 |
10099 | rs7212060 | A/C | Intron 5 | 0.347 | 0.486 | 0.703 |
13255 | rs4366742 | G/A | Intron 6 | 0.119 | 0.360 | 0.394 |
13324 | rs8178857 | C/A | Intron 6 | 0.097 | 0.075 | 0.111 |
13524 | rs2873966 | C/T | Intron 6 | 0.187 | 0.125 | 0.306 |
14740 | rs3176975 | G/T | Val247Leu | 0.470 | 0.542 | 0.773 |
14917 | rs4791077 | T/G | Cys306Gly | 0.007 | 0.049 | 0.026 |
14969 | rs1544556 | C/T | Intron 7 | 0.051 | 0.089 | 0.268 |
15937 | rs8178943 | T/G | Intron 7 | 0.097 | 0.001 | 0 |
15957 | rs4791079 | C/A | Intron 7 | 0.195 | 0.365 | 0.396 |
16219 | rs4790914 | C/G | Intron 7 | 0.187 | 0.364 | 0.393 |
17212a | rs8178862 | G/C | Thr316Ser | 0.005 | 0.041 | 0.061 |
18368 | rs8178818 | G/A | 3′ Flanking region | 0.110 | 0.260 | 0.143 |
18774 | rs8178819 | T/G | 3′ Flanking region | 0.114 | 0.263 | 0.144 |
18801 | rs8178897 | A/T | 3′ Flanking region | 0.278 | 0.396 | 0.419 |
SNP, single-nucleotide polymorphism; AA, African American; MA, Mexican American; EA, European American; MAF, minor allele frequency; UTR, untranslated region.
SNPs that determine known apoH protein charge isoforms.