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Table 1 Summary of SNPs examined in the present study

From: Association of EGLN1 genetic polymorphisms with SpO2 responses to acute hypobaric hypoxia in a Japanese cohort

RefSNP ID Positiona Region N Allele frequencyb HL alleled Allele frequency in highlandersd Hobs Hexp HWE (P value)e
Ancestralc Derivedc
rs480902 1: 231,395,881 EGLN1 intron 1 46 T: 0.413 (38) C: 0.587 (54) T 0.71 0.565 0.485 0.37
rs479200 1: 231,408,034 EGLN1 intron 1 46 T: 0.609 (56) C: 0.391 (36) C 0.71 0.478 0.476 1.00
rs2808611 1: 231,412,734 EGLN1 intron 1 46 G: 0.424 (39) A: 0.576 (53) G NA 0.500 0.488 1.00
rs12097901 1: 231,421,509 EGLN1 exon 1 (C127S)f 46 G: 0.533 (49) C: 0.467 (43) C 0.90 0.457 0.498 0.56
rs186996510 1: 231,421,877 EGLN1 exon 1 (D4E)f 46 C: 0.967 (89) G: 0.033 (3) G 0.81 0.022 0.063 0.03
rs2790859 1: 231,465,611 Intergenic region 46 T: 0.620 (57) C: 0.380 (35) T 0.76 0.543 0.471 0.37
rs2275279 1: 231,591,348 TSNAX-DISC1 46 A: 0.663 (61) T: 0.337 (31) A 0.69 0.283 0.447 0.02
  1. Abbreviations: SNP single nucleotide polymorphism, H obs observed heterozygosity, H exp expected heterozygosity, HWE Hardy-Weinberg equilibrium, NA not available
  2. aPosition in NCBI build GRCh38
  3. bValues indicate allele frequencies, and the observed numbers are indicated in parentheses
  4. cThe allele whose frequency was high in African populations was defined as the ancestral allele, according to allele frequency data obtained through the Ensembl genome browser (http://www.ensembl.org, [23])
  5. dAllele frequencies are high in highlander populations [3, 13, 14]
  6. eStatistically significant P values (P < 0.05, by Fisher’s exact test) are shown in italics
  7. fAmino acid substitution