Result of the 2nd step of mapping ClinVar to Ensembl in Module 3.

NIAID Data Ecosystem2026-05-01 收录

数据链接：

https://figshare.com/articles/dataset/Result_of_the_2nd_step_of_mapping_ClinVar_to_Ensembl_in_Module_3_/25647015 数据链接链接失效反馈

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资源简介：

Result of the 2nd step of mapping ClinVar to Ensembl in Module 3.

创建时间：

2024-04-18

Deafness Variation Database

遗传性耳聋

基因变异注释

耳聋基因变异数据库（Deafness Variation Database, DVD）是一个关于听力损失相关基因变异的公共专家策展资源。该数据库由爱荷华大学分子耳鼻喉与肾脏研究实验室于2011年建立和维护，旨在通过严格整理、注释、分类和公开共享证据，推进对耳聋相关基因变异的准确分类，以支持临床诊断和决策。

知名数据库3080

SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins

蛋白质功能预测

基因变异注释

Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletions. Frameshifting indels are indels that have a length that is not divisible by 3 and subsequently c

NIAID Data Ecosystem50

Additional file 15 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

基因变异注释

融合基因分析

Additional file 15: Supplemental Table 12. Single Nucleotide Variant (SNV) Annotations.

Figshare2024-02-06 更新40

Additional file 4: Table S4. of A systematic variant annotation approach for ranking genes associated with autism spectrum disorders

基因变异注释

自闭症谱系障碍

Scores of ASD candidate genes using the scoring algorithm. Total gene scores were determined from the total score of all rare variants (RVS) and the total score of all common variants (CVS) for a give

DataCite Commons2024-12-17 更新60

Distribution of SNVs in the exon of NEU1 gene.

基因变异注释

核苷酸变异

Based on NEU1 cDNA sequence NM_000434.3. Numbers in brackets represent the p-value associated to the enrichment of SNVs in the corresponding exon calculated as described in Methods. Classification of

NIAID Data Ecosystem40

Result of the 2nd step of mapping ClinVar to Ensembl in Module 3.

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相关数据集