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gnomad-database

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Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.

When to use

• **Variant frequency lookup**: Checking if a variant is rare, common, or absent in the general population
• **Pathogenicity assessment**: Rare variants (MAF < 1%) are candidates for disease causation; gnomAD helps filter benign common variants
• **Loss-of-function intolerance**: Using pLI and LOEUF scores to assess whether a gene tolerates protein-truncating variants
• **Population-stratified frequencies**: Comparing allele frequencies across ancestries (African/African American, Admixed American, Ashkenazi Jewish, East Asian, Finnish, Middle Eastern, Non-Finnish European, South Asian)
• **ClinVar/ACMG variant classification**: gnomAD frequency data feeds into BA1/BS1 evidence codes for variant classification
• **Constraint analysis**: Identifying genes depleted of missense or loss-of-function variation (z-scores, pLI, LOEUF)

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