TABLE 1.
SNP name* | rs no. | HUGO name† | Distance from TSS (bp)‡ | Gene region | Minor allele frequency |
---|---|---|---|---|---|
m9722 | rs10030083 | NT_006316.15g0.14767780C>A | −9,722 | Upstream | 0.19 ± 0.01 |
m1668 | rs2970869 | NT_006316.15g0.14568727G>A | −1,668 | Upstream | 0.26 ± 0.01 |
i5378 | rs2946385 | NM_013261.3r0.234 + 52G>T | 5,378 | Intron 2 | 0.43 ± 0.02 |
i15867 | Rs10028665 | NM_013261.3r0.234 + 10541C>T | 15,867 | Intron 2 | 0.16 ± 0.01 |
i27289 | rs4235308 | NM_013261.3r0.2:34 + 21963A>G | 27,289 | Intron 2 | 0.39 ± 0.02 |
i55301 | rs4697046 | NM_013261.3r0.235–3026A>G | 55,301 | Intron 2 | 0.37 ± 0.02 |
G482S | rs8192678 | NP_037393.1p.Gly482Ser | 76,089 | Exon 8 | 0.29 ± 0.01 |
T612M | rs3736265 | NP_037393.1p.Thr612Met | 76,994 | Exon 9 | 0.06 ± 0.01 |
3U4898 | rs3774923 | NM_013261.3r0.4778G>A | 96,637 | 3′-Untranslated region, exon 13 | 0.04 ± 0.01 |
Data are means ± SE.
m indicates a SNP is located in the promoter or upstream of the gene; i is in the intron; 3U is in the 3′-untranslated region; and others are substitution changes in exons.
HUGO names of SNPs are based on nomenclature recommendations of the Human Genome Variation Society (http:/www.hgvs.org/rec.html).
TSS, transcription start site.