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. 2023 Feb 10;9(2):e13659. doi: 10.1016/j.heliyon.2023.e13659

Table 2.

Characterization of the studied FLG SNPs in SCAALA Brazilian cohort.

SNP Position A1 A2 Non-eczema Eczema Function RegulomeDB Rank
rs115053459 152274909 T C 0.02 0.01 Utr variant 3 prime 6
rs76330665 152275273 T G 0.02 0.01 Missense 3b
rs3814299 152275453 A G 0.01 0.02 Missense 3a
rs3126065 152275559 G A 0.20 0.22 Missense 5
rs78733053 152275644 A G 0.02 0.01 Synonymous codon 5
rs62623409 152281745 T G 0.01 0.01 Missense 4
rs74129458 152281876 C T 0.02 <0.01 Missense 4
rs12405278 152282267 A G 0.14 0.11 Missense 5
rs151103850 152282684 A G 0.01 0.01 Missense 5
rs76586335 152284673 A G 0.02 <0.01 Missense, upstream variant 2 KB 3a
rs77032592 152285002 A G 0.02 0.01 Missense, upstream variant 2 KB 5
rs114762657 152285290 T C 0.04 0.02 Missense, upstream variant 2 KB 5
rs74129464 152285759 G A 0.02 <0.01 Missense, upstream variant 2 KB 4
rs11588170 152286032 T C 0.14 0.11 Missense 5
rs76438926 152287078 A G 0.04 0.03 Intron variant, missense 4
rs115489580 152287213 C T 0.04 0.03 Missense, nc transcript variant 6
rs76385639 152289573 A C 0.02 0.01 Intron variant 3a
rs6587666 152296863 T C 0.23 0.16 Intron variant 7

aSNP, single nucleotide polymorphism; bPosition, location (assembly GRCh37.p13); cA1, minor allele; dA2, ancestral allele; eMAF, minor allele frequency; fRegulomeDB rank refers to: 3a: TF binding + any motif + DNase peak; 3b: TF binding + matched TF motif; 4: TF binding + DNase peak; 5: TF binding or DNase peak; 6: Motif hit; 7: Other.