Table 1.
Description of the SNPs in the NOD2 gene evaluated in our study
| RefSNP | Genome coordinates | aa change | Alleles | CEU MAF | MAF in our study | HWE |
|---|---|---|---|---|---|---|
| rs2066842 | chr16:50710713 | P268S | C > T | 0.102 | 0.278 | 0.72 |
| rs2066844 | chr16:50712015 | R702W | C > T | 0.014 | 0.027 | 0.77 |
| rs2066845 | chr16:50722629 | G908R | G > C | 0.005 | 0.002 | 1.00 |
| rs2066847 | chr16:50729867 | 1007fs | − > C | 0.006 | 0.022 | 0.98 |
Publically available sequencing data from Pilot 1 of the 1000 Genomes Project (www.1000genomes.org) was used to determine MAF. Genome coordinates were extracted from the hg18 build
SNP single-nucleotide polymorphism, aa amino acid, P prolins, S serine, R arginine, W tryptophan, G Glycine, fs frameshift, CEU Utah Residents (CEPH) with Northern and Western Ancestry, MAF minor allele frequency, HWE Hardy Weinberg Equilibrium