Table I.
Characteristics of ELAC2 SNPs among Caucasians
| SNP name | SNP name used in Camp et al. (22) | rs # | Nucleotide change (amino acid change) | Location | bp relative to start codon ATG | Controls | Cases | ||
| MAF (%) | HWE, P-value | MAF (%) | HWE, P-value | ||||||
| Snp1 | S1 | rs2322779 | T → C | Promoter | −12682 | 16 | 0.14 | 19 | 0.74 |
| Snp2 | S4 | Not applicable | G → A | Promoter | −6280 | 30 | 0.99 | 33 | 0.40 |
| Snp3 | S5 | rs12600940 | C → T | Promoter | −3831 | 49 | 0.35 | 46 | 0.44 |
| Snp4 | S7 | rs2051974 | G → A | Promoter | −381 | 24 | 0.81 | 24 | 0.17 |
| Snp5 | SL | rs4792311 | C → T (Ser217Leu) | Exon | 6256 | 32 | 0.88 | 32 | 0.17 |
| Snp6 | S11 | rs2302069 | A → G | Intron | 7241 | 14 | 0.45 | 13 | 0.44 |
| Snp7 | AT | rs5030739 | G → A (Ala514Thr) | Exon | 21363 | 0 | Not applicable | 0 | Not applicable |
| Snp8 | S17 | rs17552022 | A → G | Exon | 22970 | 13 | 0.36 | 14 | 0.21 |
HWE, Hardy–Weinberg equilibrium; MAF, minor allele frequency.