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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