PNVR
Open-Access Genomics Registry

Pakistan Neurogenomic
Variant Repository

PNVR catalogues published neurogenetic variants identified in Pakistani and South Asian families — searchable by gene, chromosome, disease, and inheritance pattern, with a live genome browser built in.

Launch the Dashboard → Learn more

About the registry

PNVR is an open-access resource built to support clinicians, researchers, and genetic counsellors working with neurogenetic conditions in Pakistan and the wider South Asian region. Each variant record is curated from peer-reviewed literature and includes gene, HGVS nomenclature, chromosomal coordinates (GRCh38/hg38), variant class, associated disease, inheritance pattern, and reported ethnicity, linked back to its source publication.

GRCh38
Reference build
CC-BY 4.0
Data license
Free
Access

What you can do

🧬 Genome Browser

Explore variants directly on an interactive IGV.js genome browser, searchable by gene or locus.

🧫 Gene Cards

Look up every recorded variant, phenotype, and reference for a single gene at a glance.

🧵 Chromosome Tracks

Visualize variant density and distribution across each chromosome.

🏥 Phenotype Explorer

Filter and browse variants by associated disease, inheritance pattern, and ethnicity.

How to cite PNVR

If you use data from this registry in a publication or downstream tool, please cite it as:

Pakistan Neurogenomic Variant Repository (PNVR). Available at: https://pnvr-dashboard-vzaibinqvfjopjfayskzsn.streamlit.app

Please also cite the original source publication listed against each variant record.