TABLE 2.
Properties of ESR2 SNPs tested in this study
| SNP | Allelea | Functionb | Minor allele frequencyc | HWE P valuec | Missing rate (%) | Validation method | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1256112 | A→G | Promoter | 0.44 | 0.81 | 5.0 | BsmAI | ||||||
| rs3020444 | T→C | Promoter | 0.32 | 0.67 | 4.0 | HphI | ||||||
| rs1887994 | G→T | 5′‐Untranslated region | 0.09 | 0.43 | 4.0 | ApoI | ||||||
| rs1952586 | A→G | 5′‐Untranslated region | 0.11 | 0.28 | 7.8 | TfiI | ||||||
| rs1256030 | C→T | Intron 1 | 0.46 | 0.33 | 4.5 | AluI | ||||||
| rs1269056 | G→A | Intron 2 | 0.43 | 0.52 | 4.1 | Sequencing | ||||||
| rs1256044 | T→C | Intron 3 | 0.43 | 0.43 | 4.6 | MspI | ||||||
| rs1256049 | G→A | Exon 5 | 0.03 | 0.20 | 3.9 | RsaI | ||||||
| rs1952585 | T→C | Intron 6 | 0.07 | 0.99 | 3.9 | DdeI | ||||||
| rs4986938 | G→A | 3′ Flanking region | 0.37 | 0.88 | 3.4 | AluI | ||||||
| rs1152588d | G→C | 3′ Flanking region | 0.45 | 0.43 | 5.3 | BsrI |
a
Given in the orientation of the ESR2 gene (i.e. minus/reverse strand).
b
Based on the ESR2 reference sequence (see Fig. 1).
c
Minor allele frequency and Hardy‐Weinberg equilibrium (HWE) P value were calculated from 753 unrelated samples.
d
Located in the spectrin repeat containing nuclear envelope 2 (SYNE2) gene.