gwascatalog
Overview
| Field |
Value |
| Format key |
gwascatalog |
| Spec file |
formats/gwascatalog.json |
| Cite name |
GWAS Catalog |
| Version |
20220726 |
| Source |
https://www.ebi.ac.uk/gwas/docs/methods/summary-statistics |
| Citation |
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., ... & Parkinson, H. (2019). The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic acids research, 47(D1), D1005-D1012. |
| ## Column mapping |
|
| Raw header |
Canonical |
base_pair_location |
POS |
beta |
BETA |
chromosome |
CHR |
ci_lower |
OR_95L |
ci_upper |
OR_95U |
effect_allele |
EA |
effect_allele_frequency |
EAF |
odds_ratio |
OR |
other_allele |
NEA |
p_value |
P |
standard_error |
SE |
variant_id |
SNPID |
| ## Coverage |
|
7/9 tier groups satisfied.
| Tier |
Status |
Matched |
Missing |
| Variant ID |
yes |
SNPID |
rsID |
| Genomic location |
yes |
CHR, POS |
— |
| Effect / other allele |
yes |
EA, NEA |
— |
| Effect size |
yes |
BETA, OR |
HR, Z |
| Uncertainty |
yes |
SE |
— |
| P-value |
yes |
P |
MLOG10P |
| Sample size |
no |
— |
N, N_CASE |
| Allele frequency |
yes |
EAF |
MAF, NEAF |
| Imputation / QC |
no |
— |
INFO |
| ## See also |
|
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