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Table 2 Comparison of Haplotype Classification Methods for 813 Sickle Cell Anemia Patients from the CSSCD

From: A phased SNP-based classification of sickle cell anemia HBB haplotypes

Haplotype

5 RFLPs

4 SNPs

Concordance

BEN/BEN

371

367

0.989218329

BEN/CAR

226

224

0.991150442

BEN/SEN

91

91

1

BEN/CAM

41

41

1

CAR/CAR

31

31

1

CAR/SEN

17

17

1

CAR/CAM

14

14

1

SEN/CAM

9

9

1

SEN/SEN

8

8

1

BEN/AI

2

0

0

CAR/AI

1

1

1

SEN/AI

1

1

1

CAM/CAM

1

1

1

  1. Five RFLP represents haplotypes previously assigned by RFLPs using information from 5 restriction sites based on Southern blotting. 4 SNPs represents the number of haplotypes assigned using the phased SNP-based classification