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.