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. 2023 Nov 16;14:1283907. doi: 10.3389/fendo.2023.1283907

Table 2.

Estimated single nucleotide polymorphism (SNP) haplotype frequency with statistics in the region of bilateral 20 SNPs flanking the indel variant rs786204542.

Haplotype Name Haplotype SNP Compositiona Affected patients (n=3) Controls (n=4062) Fisher’s exact test
P-valueb
Permutation
P-valuec
Count Percent (%) Count Percent (%)
Haplotype A 2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2-2-2-1 1 16.67 644 7.93 0.3911
Haplotype B* 2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2-2 4 66.67 287 3.53 2.28x10-5 < 10-6
Haplotype C 2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-1-2-1-2-1-1-1-2-2-2-2-2-2-2-2-2-2-2-2-1 1 16.67 264 3.25 0.18036
Haplotype D 2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1 0 0 155 1.91
Haplotype E 2-2-2-1-1-2-1-2-2-2-1-1-1-2-2-2-2-1-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2 0 0 62 0.76
Haplotype F 2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2-2-2-2-2-2-2-2-2-2 0 0 49 0.60
Haplotype G 2-2-2-2-1-2-2-1-2-2-2-2-2-2-1-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2-2-2-1 0 0 48 0.59
Haplotype H 2-2-2-2-1-2-2-1-2-2-2-2-2-2-1-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2 0 0 13 0.16
Haplotype I 2-2-2-2-1-2-2-1-2-2-2-2-2-2-1-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-2-1-2-2-2-2-2 0 0 7 0.09
Haplotype J 2-2-2-1-1-2-1-2-2-2-2-2-2-2-2-2-2-2-1-1-2-2-1-2-2-2-1-2-1-2-2-2-2-2-2-2-2-1-2-2 0 0 2 0.02

aSNP allele “2”: major allele; SNP allele “1”: minor allele.

bComparisons of haplotype frequencies between affected patients and controls using Fisher’s exact test.

cComparison of frequencies of haplotype B between affected patients and controls using permutation test, permutation time=1000000.

*Common haplotype among affected patients.