---
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)