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RareVarDB
A Comprehensive Database of Genetic Variants Associated with Rare Diseases
Database Overview
Comprehensive collection of rare disease genetic data
Rare Diseases
Genes
Variants
Data Sources
What is RareVarDB?
A specialized database dedicated to cataloging genetic variants associated with rare and orphan diseases
Focus on Rare Diseases
A distinctive database dedicated to cataloging genetic variants (SNPs & Indels) specifically associated with rare and orphan diseases.
Integrated Data Sources
Provides curated variants for rare disease research, enriched with key annotations from prominent databases:
Accelerating Genetic Research
A centralized resource for researchers, clinicians, and geneticists offering detailed insights into the genetics of rare disorders.
Key Features for Rare Disease Research
Designed for intuitive and powerful genomic data exploration.
Intuitive Variant & Disease Search
Instantly find the data you need. Search by rare disease name, a specific gene, or a genetic variant ID (SNP). Our platform provides examples to guide your queries, ensuring you can access critical information without a steep learning curve.
Example searches: "Cystic Fibrosis", "CFTR", "rs121908757"
Rich Annotation for Genetic Variants
Get a complete picture with curated genomic data. View detailed information for each rare disorder, including GARD and OMIM identifiers. For variants, explore chromosomal positions, alleles, clinical significance, and direct links to ClinVar and dbSNP.
Variant Information Includes:
Advanced Filtering for Precision Analysis
Refine your results with precision. Apply multiple filters to narrow down pathogenic variants based on criteria like Clinical Significance, genomic coordinates, and dozens of other annotations, including prediction scores from SIFT, PolyPhen, and CADD.
Filter by:
Integrated Data Sources
RareVarDB aggregates and harmonizes data from multiple authoritative sources
Comprehensive resource on rare diseases and orphan drugs
Catalog of human genes and genetic disorders
Public archive of variant interpretations
Database of single nucleotide polymorphisms
And 20+ additional specialized databases and resources
Sample Data from RareVarDB
Explore the type of information available in our database
| Disease | Gene | Variant | Clinical Significance | Chromosome |
|---|---|---|---|---|
| Cystic Fibrosis | CFTR | rs121908757 | Pathogenic | 7 |
| Huntington's Disease | HTT | rs1060505319 | Pathogenic | 4 |
| Marfan Syndrome | FBN1 | rs137854994 | Pathogenic | 15 |
| Familial Hypercholesterolemia | LDLR | rs121908033 | Pathogenic | 19 |
| Retinoblastoma | RB1 | rs121913301 | Pathogenic | 13 |
Frequently Asked Questions
Get answers to common questions about RareVarDB
How often is the database updated?
RareVarDB is updated quarterly with new data from our integrated sources and curated additions from the scientific literature. Major updates are announced through our newsletter.
Can I contribute data to RareVarDB?
We welcome data contributions from researchers. Please contact our team to discuss potential collaborations and data submission processes. All contributed data undergoes quality control before inclusion.
Is RareVarDB free to use?
RareVarDB offers both free and premium access tiers. The free tier provides access to most features with some limitations on export capabilities and API usage. Academic researchers may qualify for enhanced access.
Advance Your Rare Disease Research Today
Access our comprehensive rare variant database. Leverage RareVarDB to navigate the complexities of rare genetic diseases and drive impactful discoveries.