Table 1 Description of the SNPs in the NOD2 gene evaluated in our study

From: Genetic deficiency of NOD2 confers resistance to invasive aspergillosis

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

  1. 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
  2. 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
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