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songlab
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deprecated-human_variants

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variant-effect-prediction

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gonzalobenegas commited on Aug 9, 2023

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@@ -10,7 +10,7 @@ Missense variants considered "Pathogenic" by human labelers.
 Regulatory variants considered "Pathogenic" by human labelers, curated in [this paper](https://doi.org/10.1016/j.ajhg.2016.07.005).
 **gnomAD**:
-A subset of rare (MAC=1) and common (MAF > 5%) variants from different categories (missense, synonymous, ncRNA, intronic, upstream, etc.).
 ## Usage
 ```python

 Regulatory variants considered "Pathogenic" by human labelers, curated in [this paper](https://doi.org/10.1016/j.ajhg.2016.07.005).
 **gnomAD**:
+All common variants (MAF > 5%) as well as an equally-sized subset of rare variants (MAC=1). Only autosomes are included.
 ## Usage
 ```python