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Table 2 Haplotypes in the allele with the exon 5–6 deletion

From: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

SNP SNP alleles Location Average Heterozygosity MAF Fam A Fam B Fam C Fam D Shared haplotype Alleles in Swedish population
rs2301286 A/C Exon 1 UTR 0.397 A = 0.3832 C C C C C A/C
rs115158839 G/T Exon 1 UTR 0.033 T = 0.006 G G G G G G
rs72714915 C/G Exon 1 UTR 0.095 G = 0.0367 C C C C C C/G
rs2301287 C/G Intron 2 0.444 G = 0.3759 C C C C C C/G
rs12030747 G/A Exon 7 (Glu234Lys) 0.013 NA G G G G G G
rs36013429 G/A Exon 9 (His304Arg) 0.008 A = 0.0476 G G G G G G/A
  1. MAF minor allele frequency.
  2. NA not available.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172