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Table 2 Single nucleotide polymorphisms detected in the study population

From: Low and heterogeneous prevalence of glucose-6-phosphate dehydrogenase deficiency in different settings in Ethiopia using phenotyping and genotyping approaches

Reference SNP identifier Chromosome position SNP frequency by sex, proportion deficient (n/N) Total SNP frequency, proportion deficient (n/N) Ancestral: alternate allele Function
Male hemizygotes Female homozygotes Female heterozygotes Hemizygous/homozygous Heterozygous
rs28470352 153,753,490 8.3 (10/121) 5.8 (5/87) 20.7 (18/87) 5.8 (12/208) 10.1 (21/208) T:A Intergenic variant
rs61042368 153,755,336 5.0 (6/120) 1.2 (1/86) 1.2 (1/86) 2.4 (5/206) 1.5 (3/206) G:A Downstream gene variant
rs12389569 153,757,734 0 (0/120) 0 (0/85)* 2.4 (2/85) 0 (0/205) 1.0 (2/205) G:A Downstream gene variant
b36_153413623 153,760,429 1.7 (2/121) 2.4 (2/85) 3.5 (3/85) 1.9 (4/206) 1.5 (3/206) G:A Synonymous variant
rs2230036 153,760,953 5.9 (7/119) 1.2 (1/86) 1.2 (1/86) 2.4 (5/205) 2.0 (4/205) C:T Synonymous variant
rs73573478 153,761,564 8.9 (11/123) 2.2 (2/90) 4.4 (4/90) 4.7 (10/213) 3.3 (7/213) G:A Non coding exon variant
rs5986990 153,761,628 7.8 (9/115) 5.9 (5/85) 21.2 (18/85) 6.0 (12/200) 10.0 (20/200) G:A Non coding exon variant
rs2515905 153,762,075 3.3 (4/120) 1.2 (1/87) 4.6 (4/87) 2.4 (5/207) 1.9 (4/207) G:A Intron variant
rs2515904 153,762,771 3.3 (4/121) 1.2 (1/87) 4.6 (4/87) 2.4 (5/208) 1.9 (4/208) G:C Intron variant
rs1050829 153,763,492 8.3 (10/121) 7.9 (7/89) 20.2 (18/89) 6.7 (14/210) 10.0 (21/210) A:G Missense variant
rs1050828 153,764,217 3.3 (4/120) 0 (0/90) 3.3 (3/90) 1.9 (4/210) 1.4 (3/210) G:A Missense variant
rs762515 153,764,528 7.7 (9/117) 5.8 (5/86) 20.0 (17/86) 5.9 (12/203) 9.4 (19/203) T:C Intron variant
rs762516 153,764,663 3.3 (4/121) 1.2 (1/87) 4.6 (4/87) 2.4 (5/208) 1.9 (4/208) C:T Intron variant
rs113492957 153,773,062 9.2 (11/120) 2.3 (2/86) 3.5 (3/86) 4.9 (10/206) 2.9 (6/206) C:T Intron variant
rs111827785 153,775,785 18.2 (22/121) 9.6 (8/83) 24.1 (20/83) 12.8 (26/204) 11.8 (24/204) T:C 5′ UTR
rs60030796 153,836,171 5.0 (6/119) 4.6 (4/87) 12.6 (11/87) 3.4 (7/206) 6.8 (14/206) A:G Downstream gene variant
  1. SNP single nucleotide polymorphism
  2. The following SNPs were monomorphic and excluded from further analysis: rs5030869, rs76723693 (968), rs137852328 (680), rs5030868, rs5030872 (542), and rs137852318. *SNP with minor allele frequency < 1% and was omitted from further analysis. Italicized are the well-known rs1050828 (G202A) and rs1050828 (A376G) African polymorphisms. Bolded and italicized (rs2515904) indicates a SNP that was detected in individuals who carried the 376 and 202 variants