GWAS summary data tables

We are releasing the summary statistics from our genome-wide association study (GWAS) of Hirschsprung disease (170 cases and 4717 controls of Danish ancestry). The file includes 6,162,480 (MAF≥1%) directly genotyped or imputed single nucleotide polymorphisms (SNPs) to the Haplotype Reference Consortium (imputation info score ≥ 0.9).

The file contains:

• CHR – chromosome of the genetic variant (hg19 assembly)
• SNP - dbSNP v146 variant ID
• BP – base-pair position of the genetic variant (hg19 assembly)
• A1 – effect allele
• A2 – other allele
• OR – odds-ratio for the effect allele
• SE – standard error
• P – p-value for the logistic regression

Acknowledging the data

When using data from the downloadable GWAS summary results please acknowledge the source of the data as follows:

Data on Hirschsprung disease GWAS have been contributed by Statens Serum Institut investigators and have been downloaded from https://www.danishnationalbiobank.com/GWAS.

In addition to the above acknowledgement, please cite the paper:

Fadista J et al. Genome-wide association study of Hirschsprung disease detects a novel low frequency variant at the RET locus. European Journal of Human Genetics 2018 Apr;26(4):561-569.

Downloading the data

biobanks.dk/GWAS/Hirschsprung_GWAS_summaryStats.txt.gz

Disclaimer

These data are provided "as is" and without warranty, for scientific and educational use only. The authors assume no responsibility for errors or omissions. If you download these data, you acknowledge that these data will be used only for non-commercial research purposes; that the investigator is in compliance with all laws or regulations and institutional policies regarding human subjects and genetics research; and that secondary distribution of the data is prohibited. The authors shall not be held liable for any use or misuse of the data.