The scope of inherited burden for disease predisposition across diverse populations variant set
收藏NIAID Data Ecosystem2026-05-02 收录
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https://zenodo.org/record/14754367
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资源简介：
The data presented as a TSV table contains a list of all variants of 3970 PanelApp disease genes from 730,947 individuals from gnomAD 4.1.0. The columns are:
Variant identifier (chromosome, position, reference allele, alternate allele),
Gene name,
Variant effect based on Ensembl VEP,
AAVC classification & criteria,
Allele count & number information for all eight genetic ancestry groups.
AAVC can be accessed through https://aavc.bilkent.edu.tr/.
创建时间：
2025-02-03
