README.md

metadata

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.

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
• hg38-variant-consequences