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license: apache-2.0
tags:
- biology
- genomics
- dna
- variant-effect-prediction
---
# gnomAD v4.1 Variants with Consequence Annotations
This dataset contains SNVs from gnomAD v4.1 genomes joined with variant consequence annotations.
Code: https://github.com/gonzalobenegas/gnomad
## Columns
### Coordinates
- `chrom`: Chromosome (1-22, X, Y)
- `pos`: Position (1-based)
- `ref`: Reference allele
- `alt`: Alternate allele
### gnomAD Allele Frequencies
- `AC`: Allele count
- `AN`: Allele number
- `AF`: Allele frequency
### Consequence Annotations
Columns from [hg38-variant-consequences](https://huggingface.co/datasets/songlab/hg38-variant-consequences).
## Processing
- Only PASS variants are included
- Only biallelic SNVs are included
- Left join with consequences
- Sorted by (chrom, pos, ref, alt)
## Sources
- [gnomAD v4.1](https://gnomad.broadinstitute.org/)
- [hg38-variant-consequences](https://huggingface.co/datasets/songlab/hg38-variant-consequences)
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