Biomedical Science Letters

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Table. 3.

Results of the HaploReg of SNP in the KL gene on chromosome 20

No. SNP A1 A2 ASN freq Case freq of this study

Enhancer histone marks Motifs changed
1 rs2932966 C A 0.06 0.075 HRT 10 altered motifs
2 rs1472095 T C 0.06 0.074 4 tissues  8 altered motifs

Abbreviations: SNP, single nucleotide polymorphism; A1, minor allele; A2, major allele; +, affect; HaploReg is a tool for exploring annotations of candidate regulatory SNPs (https://pubs.broadinstitute.org/mammals/haploreg/haploreg_v4.php)

Biomed Sci Letters 2021;27:12-8 https://doi.org/10.15616/BSL.2021.27.1.12
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