Table 6.
The 10 phenotypes with smallest rs7512462 association p-value obtained from the GWAS ATLAS44.
| PMID | Domain | Trait | Effect Size | P-value at rs7512462 | N | Colocalization P-value |
|---|---|---|---|---|---|---|
| 30804560 | Respiratory | PEF (UKBB) | 0.038 | 4.33 × 1046 | 321,047 | 2.24 x 10−9 |
| 30804560 | Respiratory | PEF (Meta of UKBB and Spirometa) | 0.037 | 2.74 × 10−44 | 345,265 | 2.82 × 10−8 |
| 30807572 | Gastrointestinal | Meconium ileus in CF | −0.289 | 1.86 × 10−9 | 6770 | NA |
| 28436984 | Reproduction | Age at menarche | −0.021 | 3.93 × 10−6 | 252,514 | 3.63 × 10−8 |
| 30804560 | Respiratory | FEV1/FVC ratio (Meta of UKBB and Spirometa) | 0.01 | 4.11 × 10−5 | 400,102 | 6.03 × 10−9 |
| 30804560 | Respiratory | FEV1/FVC ratio (UKBB) | 0.01 | 1.44 × 10−4 | 321,047 | 2.24 × 10−8 |
| 23754948 | Metabolic | Waist circumference (male) | 0.03 | 2.2 × 10−4 | 36,231 | 7.08 × 10−9 |
| 25231870 | Reproduction | Age at menarche | −0.023 | 3.2 × 10−4 | 132,989 | 7.41 × 10−9 |
| 19430480 | Endocrine | Type 1 Diabetes | NA | 7.47 × 10−4 | 7982 | NA |
| 23754948 | Metabolic | Waist-hip ratio (male) | 0.028 | 7.7 × 10−4 | 34,629 | 1.78 × 10−8 |
The colocalization p-value assesses evidence for common genetic contributions between the corresponding study phenotype and the meconium ileus CF GWAS1 at chr1:205,895,000-205,921,000 locus. The effect allele in all studies is C, and the other allele is T, except for type 1 diabetes, where the effect size is not reported for the SNP in the original summary statistics from the listed publication (PMID). PheWAS significance level is p < 1.05 × 10−5 after adjusting for 4756 GWAS in the database (alpha 0.05). UKBB refers to an analysis using the UK Biobank. ‘Colocalization P-value’ represents the p-values from the colocalization analysis calculated here with the CF GWAS summary statistics in Gong et al.1 for the corresponding phenotype, using LocusFocus46 calculated on the chr1: 205,895,000-205,925,000 region in hg19. NA in this column reflects a lack of information available to carry out the colocalization analysis.