RADR

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

RADR（罕见阿尔茨海默病及相关痴呆变异库，Repository for Rare Alzheimer’s Disease and Related Dementia Variants）数据库是经人工整理注释的参考数据集，收录了与阿尔茨海默病（AD）及相关痴呆（ADRD）相关基因中的罕见、蛋白质改变型及疾病关联变异。该数据集整合了来自ClinVar、AlzForum、InterVar及文献来源的变异注释信息，并以GRCh38基因组坐标体系完成了统一标准化处理。每条记录对应一个唯一的变异条目，包含其基因组位置、预测效应及疾病特异性分类。RADR的设计目标是助力大型生物样本库与测序队列（如我们所有人（All of Us）研究、BioMe队列及英国生物样本库（UK Biobank））中的变异解读、外显率估算及遗传风险建模。