dbnsfp_ps1_blb.csv
收藏Figshare2022-07-05 更新2026-04-08 收录
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资源简介:
A table of ClinVar-dbNSFP variant pairs with PS1 evidence, where one variant is classified as B/LB (b, lb, or b/lb) and the other is unclassified (not in ClinVar). All ClinVar columns are included, and documentation for additional columns can be found in "Non-ClinVar Column Descriptions". Select dbNSFP columns are included, and documentation for these can be found in "dbNSFP Column Descriptions". The columns of ClinVar variants are preceded by "cv_" and those of dbNSFP variants are preceded by "db_". Missing data is marked with "-". <br> <em>Note:</em> This list is based on a criteria analogous to PS1 for the benign classification, although this is not an ACMG/AMP evidence tier.
提供机构:
Bhat, Vineel
创建时间:
2022-07-05



