Table 3a-d.
Haplotypes of variation at five loci influencing innate immunity in a Black South African cohort, n=138.
| Table 3a. Haplotypes in IFIH1 on chromosome 2 (encodes MDA5). | |||||||
| SNP | rs1990760 | rs3747517 | rs10930046 | rs984971 | |||
| reference allele | C | C | T | G | |||
| minor allele | T | T | C * | A | |||
| mutation type | missense | missense | missense | intron | frequency | ||
| ht1 | . | . | C | . | 0.480 | ||
| ht2 | . | T | . | . | 0.391 | ||
| ht3 | . | . | C | A | 0.057 | ||
| ht4 | T | . | . | A | 0.050 | ||
| ht5 | T | . | . | . | 0.012 | ||
| ht6 | . | T | . | A | 0.010 | ||
| Table 3b. Haplotypes in DDX58 on chromosome 9 (encodes RIG-1). | |||||||
| SNP | rs55789327 | rs669260 | rs10813831 | ||||
| reference allele | G | T | G | ||||
| minor allele | A | C | A | ||||
| mutation type | missense | intron | missense | frequency | |||
| ht1 | . | . | . | 0.463 | |||
| ht2 | . | C | . | 0.234 | |||
| ht3 | . | . | A | 0.220 | |||
| ht4 | A | . | . | 0.083 | |||
| Table 3c. Haplotypes in TLR3 on chromosome 4. | |||||||
| SNP | rs5743305 | rs13126816 | rs3775296 | rs5743312 | rs3775292 | rs10025405 | |
| reference allele | T | G | C | C | G | A | |
| minor allele | A | A | A | T | C | G | |
| mutation type | 5’ TF binding site | intron | splice region | intron | non coding exon | 3’ UTR | frequency |
| ht1 | . | . | . | . | . | . | 0.417 |
| ht2 | A | . | . | . | . | . | 0.179 |
| ht3 | . | . | . | . | . | G | 0.116 |
| ht4 | . | . | . | . | C | . | 0.068 |
| ht5 | . | . | A | T | . | G | 0.056 |
| ht6 | . | A | . | . | . | . | 0.032 |
| ht7 | . | . | A | T | . | . | 0.029 |
| ht8 | . | . | A | . | . | . | 0.028 |
| ht9 | A | . | . | . | . | G | 0.025 |
| ht10 | A | A | . | . | . | . | 0.020 |
| Table 3d. Haplotypes of SNPs in TLR7 and TLR8 on chromosome X. | |||||||
| Gene | TLR7 | TLR7 | TLR7 | TLR7 | TLR7 | TLR8 | |
| SNP | rs179008 | rs864058 | rs3853839 | rs179007 | rs5935438 | rs2159377 | |
| reference allele | A | G | C | A | G | C | |
| minor allele | T | A | G | G | C | T | |
| mutation type | missense | synonymous | 3’ UTR | intergenic | TF binding site | synonymous | frequency |
| ht1 | . | A | . | G | . | . | 0.205 |
| ht2 | . | . | . | . | C | . | 0.188 |
| ht3 | . | . | . | . | . | . | 0.175 |
| ht4 | . | . | . | . | . | T | 0.064 |
| ht5 | . | . | G | . | . | . | 0.063 |
| ht6 | . | A | . | . | C | . | 0.062 |
| ht7 | . | A | . | . | . | . | 0.057 |
| ht8 | T | . | . | . | . | . | 0.034 |
| ht9 | . | . | . | G | . | . | 0.029 |
| ht10 | . | A | . | . | C | T | 0.026 |
| ht11 | . | . | G | . | . | T | 0.017 |
| ht12 | T | . | . | . | C | . | 0.013 |
| ht13 | T | A | . | . | . | . | 0.011 |
| ht14 | . | A | . | G | C | . | 0.012 |
| ht15 | T | . | . | G | . | . | 0.010 |
C is the minor allele in most populations but MAF in SA was >0.5. T allele is considered to be wild type.
Dots indicate identity to reference allele.