Haematological trait GWAS summary statistics
We recently conducted a genomewide association study in the INTERVAL and UK Biobank studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet traits in 173,480 European-ancestry participants. We identified thousands of associated variants, including hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. The paper describing these results was published in Cell in November 2016: Astle, William J., Elding, H., Jiang, T., et al. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Cell 167, 1415-1429.e1419.
The links to the summary statistics from this paper are below.
Each of the files has the following headers:
VARIANT: Unique ID we generated for all variants in the format: “chromosome:position_reference_alternative”
ID: rsID (where available)
BP: Position (GRCh37)
REF: Reference allele, also our baseline allele
ALT: Alternative allele, also our effect allele
ALT_MINOR: Is the alternative allele also the minor allele?
DIRECTION: Direction of effect
EFFECT: beta (per standard deviation)
SE: Standard error
ALT_FREQ: Allele frequency for the alternative allele
MA_FREQ: Allele frequency for the minor allele