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. 2013 Aug 22;9(8):e1003585. doi: 10.1371/journal.pgen.1003585

Table 1. The ten most strongly associated SNPs in the unconditional GWAS on AAT serum level in SAPALDIA (N = 1392).

SNP Chromosome Position Gene Location Determination MAF Imp-r2 Allele Effect P
rs2736887 14 93882733 intergenic imputed 0.185 0.950 0.071 2.48E-13
rs926144 14 93883155 intergenic imputed 0.186 0.950 0.071 2.72E-13
rs7151526 14 93933389 SERPINA1 5′UTR imputed 0.065 0.769 0.116 6.78E-13
rs4905179 14 93865245 SERPINA6 5′UTR genotyped 0.180 1.000 0.068 1.20E-12
rs11621961 14 93839229 SERPINA6 3′UTR genotyped 0.355 0.945 0.052 1.37E-11
rs17751837 14 93937997 SERPINA1 5′UTR genotyped 0.097 0.995 0.063 8.56E-08
rs1028580 14 93919635 SERPINA1 intron imputed 0.154 0.979 0.051 4.87E-07
rs8010121 14 93920367 SERPINA1 intron genotyped 0.155 0.999 0.049 6.64E-07
rs3748312 14 93924017 SERPINA1 intron imputed 0.148 0.846 0.053 9.84E-07
rs17752593 14 94007781 SERPINA9 intron genotyped 0.129 0.997 0.053 1.59E-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.