# Human variants
A curated set of variants from three sources: ClinVar, OMIM and gnomAD.

## Data sources

**ClinVar**:
Missense variants considered "Pathogenic" by human labelers.

**OMIM**:
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 > 1%) variants from different categories.

## Usage
Load dataset:
```python
from datasets import load_dataset

dataset = load_dataset("songlab/human_variants", split="test")
```

Subset to compare ClinVar Pathogenic missense vs. gnomAD common missense (here we define common as MAF > 5%):
```
```