Table 2. The ten most strongly associated SNPs in the GWAS on AAT serum level, conditional on PI S and PI Z alleles in SAPALDIA (N = 1392).
| SNP | Chromosome | Position | Gene | Location | Determination | MAF | Imp-r2 | Allele Effect | P |
| rs2566347 | 3 | 159974071 | intergenic | imputed | 0.192 | 0.998 | 0.043 | 7.88E-08 | |
| rs1560417 | 3 | 159972476 | intergenic | imputed | 0.200 | 0.998 | 0.042 | 1.11E-07 | |
| rs1560418 | 3 | 159972335 | intergenic | genotyped | 0.200 | 1.000 | 0.042 | 1.11E-07 | |
| rs1430414 | 3 | 159987697 | MFSD1 | 5′UTR | imputed | 0.137 | 0.984 | 0.045 | 9.26E-07 |
| rs6761989 | 3 | 159983253 | intergenic | imputed | 0.137 | 0.993 | 0.044 | 1.14E-06 | |
| rs17643917 | 3 | 159968433 | intergenic | imputed | 0.137 | 1.000 | 0.044 | 1.23E-06 | |
| rs17643860 | 3 | 159967954 | intergenic | imputed | 0.137 | 1.000 | 0.044 | 1.24E-06 | |
| rs17700475 | 3 | 159967627 | intergenic | genotyped | 0.137 | 1.000 | 0.044 | 1.25E-06 | |
| rs3863076 | 3 | 159969394 | intergenic | genotyped | 0.145 | 1.000 | 0.042 | 1.69E-06 | |
| rs2206593 | 1 | 184909052 | PTGS2 | 3′UTR | genotyped | 0.065 | 0.956 | 0.060 | 4.60E-06 |
Abbreviations: AAT, alpha1-antitrypsin; GWAS, genome-wide association study; MAF, minor allele frequency; SNP, single nucleotide polymorphism.
Imp-r2 is an indicator for imputation quality. SNPs with MAF<0.05 or imp-r2<0.5 were excluded.
Chromosomal position is based on reference panel, NCBI build 36.3. Allele effects are shown in absolute numbers.