Welcome
Pakistan's 1st ophthalmic genetics gene-disease variation database at Al-Shifa Trust Eye Hospital, Rawalpindi, bringing together curated variants, transcript evidence, and disease phenotypes for clinical decision support and research translation.
Database connection …
Our Objective
The Al-Shifa Ophthalmic Gene Variation Database is dedicated to systematically cataloguing pathogenic and likely pathogenic variants identified in Pakistani patients presenting with inherited eye disorders. By integrating ACMG-classified variant data with disease–gene associations and population-specific allele frequencies, we aim to:
- Accelerate molecular diagnosis of rare ophthalmic conditions in under-served populations.
- Provide a curated, clinician-ready reference for variant interpretation and reporting.
- Support translational research linking genotype to phenotype in South Asian cohorts.
- Foster collaboration between clinical genetics, ophthalmology, and bioinformatics.
- Contribute Pakistan-specific variant data to global genomic reference resources.