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+ # Human variants
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+ A curated set of variants from three sources: ClinVar, OMIM and gnomAD.
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+
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+ ## Data sources
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+
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+ **ClinVar**:
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+ Missense variants considered "Pathogenic" by human labelers.
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+
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+ **OMIM**:
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+ Regulatory variants considered "Pathogenic" by human labelers, curated in [this paper](https://doi.org/10.1016/j.ajhg.2016.07.005).
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+
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+ **gnomAD**:
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+ A subset of rare (MAC=1) and common (MAF > 1%) variants from different categories.
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+
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+ ## Usage
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+ Load dataset:
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+ ```python
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+ from datasets import load_dataset
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+
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+ dataset = load_dataset("songlab/human_variants", split="test")
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+ ```
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+
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+ Subset to compare ClinVar Pathogenic missense vs. gnomAD common missense (here we define common as MAF > 5%):
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+ ```
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+ ```