Table 2 List of IFNGR1 SNPS detected in Sudanese PKDL patients
SNP | Region | Alleles | Position | Consequence (Loss or gain TFBS a, AA change, splicing site) | MAF b |
|---|---|---|---|---|---|
rs1327474 | 5′-Promoter | A/G | −611 | HOXC13, GATA | 0.057 |
rs41401746 | 5′-Promoter | TT/-- | −470 | PU.1, Lyf-1 | 0.020 |
rs14183614 | 5′-Promoter | T/C | −270 | - | 0.017 |
rs7753590 | 5′-Promoter | T/G | −187 | SP1, EKLF | 0.035 |
Novel | 5′-Promoter | A/G | −77 | CREB, HRE | 0.013 |
rs2234711 | 5′-Promoter | T/C | −56 | MIZ1 | 0.476 |
Novel | Exon 1 | C/T | +10 | Leu/Phe | 0.012 |
Novel | Exon 1 | C/T | +18 | Synonymous | 0.023 |
Novel | Intron 1 | G/T | +91 | Splicing site | 0.108 |
rs7749390 | Intron 1 | T/C | +95 | Splicing site | 0.388 |