Table 2.
Summary of the four EGLN1 SNPs examined in this study.
| RefSNP ID | Position | Cohort | N d | Allele frequencye | H obs | H exp | HWE (p value)f | |
|---|---|---|---|---|---|---|---|---|
| Major | Minor | |||||||
| rs2486740 | 1 : 231517552a | Entirec | 99 | T: 0.73 (145) | C: 0.27 (53) | 0.37 | 0.39 | 0.61 |
| 1 : 231381806b | La Paz | 48 | T: 0.71 (68) | C: 0.29 (28) | 0.38 | 0.41 | 0.50 | |
| El Alto | 51 | T: 0.75 (77) | C: 0.25 (25) | 0.37 | 0.37 | 1.00 | ||
| rs508618 | 1 : 231532312a | Entirec | 99 | G: 0.61 (120) | A: 0.39 (78) | 0.46 | 0.48 | 0.83 |
| 1 : 231396566b | La Paz | 48 | G: 0.55 (53) | A: 0.45 (43) | 0.52 | 0.49 | 1.00 | |
| El Alto | 51 | G: 0.66 (67) | A: 0.34 (35) | 0.41 | 0.45 | 0.54 | ||
| rs12097901 | 1 : 231557255a | Entirec | 99 | C: 0.83 (164) | G: 0.17 (34) | 0.55 | 0.48 | 0.21 |
| 1 : 231421509b | La Paz | 48 | C: 0.81 (78) | G: 0.19 (18) | 0.60 | 0.49 | 0.15 | |
| El Alto | 51 | C: 0.84 (86) | G: 0.16 (16) | 0.49 | 0.46 | 0.77 | ||
| rs1769792 | 1 : 231598618a | Entirec | 99 | G: 0.61 (120) | A: 0.39 (78) | 0.28 | 0.28 | 1.00 |
| 1 : 231462872b | La Paz | 48 | G: 0.57 (55) | A: 0.43 (41) | 0.33 | 0.30 | 1.00 | |
| El Alto | 51 | G: 0.64 (65) | A: 0.36 (37) | 0.24 | 0.26 | 0.59 | ||
Abbreviations: SNP—single-nucleotide polymorphism; Hobs—observed heterozygosity; Hexp—expected heterozygosity; HWE—Hardy-Weinberg equilibrium. aChromosomal position in NCBI build GRCh37. bChromosomal position in NCBI build GRCh38. cCombined cohort of La Paz and El Alto cohorts. dThe number of individuals. eValues indicate allele frequencies, with the observed numbers indicated in parentheses. fProbability of a genetic variant whose genotype distribution does not deviate from HWE.