DOI: 10.5281/zenodo.17536481
title: RADR

description: The RADR (Repository for Rare Alzheimer’s Disease and Related Dementia Variants) database is a curated reference of rare, protein-altering, and disease-associated variants in genes implicated in Alzheimer’s disease (AD) and related dementias (ADRD).

This dataset aggregates variant annotations from ClinVar, AlzForum, InterVar, and literature sources, harmonized under GRCh38 genomic coordinates. Each row represents a unique variant record with its genomic position, predicted effect, and disease-specific classification.

RADR is designed to facilitate variant interpretation, penetrance estimation, and genetic risk modeling across large biobank and sequencing cohorts such as All of Us, BioMe and UK Biobank
description: Column Name
Description / Purpose




gene
HGNC-approved gene symbol containing the variant.


chromosome
Chromosome number (GRCh38 reference).


position
Genomic coordinate of the variant (base position, GRCh38).


ref
Reference allele in the genome.


alt
Alternate (mutant) allele observed.


gh37_gdna_coordinates
Full genomic coordinate representation (e.g., “chr9:g.104826957C>G”).


hgvsg
HGVS genomic variant nomenclature GRCh38 (e.g., “chr6:g.41166068G>A”).


hgvsp
HGVS protein variant nomenclature (e.g., “p.Arg47His”).


hgvsp_brief
Simplified protein change (e.g., “R47H”).


exonic_function
Functional class (e.g., “nonsynonymous SNV”, “stopgain”).


region
Genomic region annotation (e.g., exon, intron, UTR).


mutation_type
Structural variant type (e.g., insertion, deletion, substitution).


codon_change
Codon-level change associated with the variant.


transcript
Transcript ID or accession used for annotation.


strand
Indicates whether the variant lies on the + or – DNA strand.


transvar_input
TransVar input or canonical variant representation used for annotation.


clinical_phenotype
Disease(s) or phenotype(s) associated with the variant.


clinical_phenotype_source
Source or database reporting the phenotype association.


neuropathology_alzforum
Neuropathological evidence curated from AlzForum.


info_transvar
Additional TransVar annotation metadata.


dbsnp_id_clinvar
dbSNP rsID where available.


clinvar_allele_id
ClinVar’s internal allele identifier.


clinvar_review_status
ClinVar review confidence (e.g., “criteria provided, multiple submitters, no conflicts”).


clinvar_clinical_significance
ClinVar clinical significance label (e.g., “Pathogenic”, “Likely benign”).


intervar_classification
Automated ACMG/AMP classification by InterVar.


radr_classification
Curated RADR classification integrating multiple evidence sources (e.g., “pathogenic”, “uncertain significance”, “possible risk modifier”).


variant_classification_source
Primary evidence source for RADR classification (e.g., “ClinVar”, “AlzForum”, “Literature”).


disease_specific_pathogenecities
Disease-contextual classification (e.g., “AD: Possible Risk Modifier”).


odds_ratio_(single_variant)
Reported odds ratio for the specific variant if available.


odds_ratio_(combined_variant)
Combined odds ratio when grouped with other variants in the same gene.


rvas
Indicates inclusion in rare variant association study analyses.


source_(2)
Secondary source or supporting database reference.