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Table 1 Linkage disequilibrium of DEFA1A3 flanking SNPs

From: Inferring mechanisms of copy number change from haplotype structures at the human DEFA1A3 locus

Haplotype class

SNP Genotypes

rs4300027

rs7825750

rs7826487

rs62487514

Reference Sequence

T

T

A

C

Class 1

C

T

G

C

Class 2

C

C

A

C

Exchange 1

T

T

A

A

Exchange 2

C

T

A

C

  1. The genotype combinations for the four tag SNPs able to identify each of the five DEFA1A3 haplotype classes. Due to the pattern of linkage disequilibrium (Additional file 1: Table S1), a diploid genotype profile can be used to determine the haplotype classes of the two haplotypes for the genotyped individual.
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BMC Genomics

ISSN: 1471-2164

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