Variants within the non-coding genome are frequently associated with phenotypes in genome-wide association studies. These non-coding regions may be involved in the regulation of gene expression, encode functional non-coding RNAs, or influence splicing and other cellular functions. We have curated a list of characterized non-coding human genome variants based on the published evidence that indicates phenotypic consequences of the variation. In order to minimize annotation errors, two curators have independently verified the supporting evidence for pathogenicity of each non-coding variant in the published literature. The database consists of 721 non-coding variants linked to the published literature describing the evidence of functional consequences. We have also sampled 7228 covariate-matched benign controls, that have a population frequency of over 5%, from the single nucleotide polymorphism database (dbSNP151) database. These were sampled controlling for potential confounding factors such as linkage with pathogenic variants, annotation type (untranslated region, intron, intergenic, etc.) and variant type (substitution or indel). The dataset presented here represents a curated repository, with a potential use for the training or evaluation of algorithms used in the prediction of non-coding variant functionality.

中文翻译：

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ncVarDB：用于致病性非编码变异和良性对照的手动管理数据库

非编码基因组内的变异经常与全基因组关联研究中的表型相关。这些非编码区可能参与基因表达的调控，编码功能性非编码 RNA，或影响剪接和其他细胞功能。我们根据已发表的表明变异表型后果的证据，整理了一系列特征性非编码人类基因组变异。为了尽量减少注释错误，两位策展人独立验证了已发表文献中每个非编码变异的致病性的支持证据。该数据库包含 721 个非编码变体，这些变体与描述功能后果证据的已发表文献相关联。我们还采样了 7228 个协变量匹配的良性对照，来自单核苷酸多态性数据库（dbSNP151）数据库的种群频率超过 5%。这些样本是针对潜在混杂因素进行采样的，例如与致病变异的关联、注释类型（非翻译区、内含子、基因间等）和变异类型（替换或插入缺失）。此处提供的数据集代表了一个精选的存储库，可用于训练或评估用于预测非编码变体功能的算法。