Table 2.
Regions of the genome significantly associated with CFTR F508del heterozygosity versus homozygosity under the baseline model
| Region | Nearest gene | rsID | REF allele | ALT allele | AAFNFE | AAFCFGP | p |
|---|---|---|---|---|---|---|---|
| 1q31.3 | AL450352.1 | rs2813164 | A | G | 0.33 | 0.33 | 1.74 × 10-8 |
| 1q41 | PROX1-AS1 | rs853741 | G | A | 0.95 | 0.94 | 2.62 × 10-9 |
| 2q14.3 | AC062020 | rs1911632 | A | C | 0.17 | 0.20 | 7.84 × 10-9 |
| 2q22.1 | THSD7B | rs533344 | T | A | 0.72 | 0.70 | 5.58 × 10-9 |
| 3p14.1 | SUCLG2 | rs11127729 | T | C | 0.95 | 0.95 | 3.28 × 10-8 |
| 6q27 | AL611929.1 | rs9455973 | G | A | 0.08 | 0.10 | 4.56 × 10-8 |
| 7q31.2 | CFTR | rs7802924 | A | G | 0.09 | 0.85 | 1 × 10-300 |
| 9q21.32 | SLC28A3 | rs6559779 | A | G | 0.10 | 0.10 | 4.95 × 10-8 |
| 10q25.2 | AL136119.1 | rs1923653 | A | G | 0.94 | 0.92 | 4.47 × 10-8 |
| 12p11.1 | SYT10 | rs949473 | G | A | 0.14 | 0.16 | 8.99 × 10-9 |
Significant p value threshold: 5 × 10-8. The baseline association model is adjusted for site and a genetic relatedness matrix. Sequence positions of association peaks are provided on the GRCh38 map. Alternate allele frequencies (AAFs) are given for non-Finnish Europeans in gnomAD v.3.1.14 and within the CFGP.