遇见数据集

Prioritized intronic variants.

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NIAID Data Ecosystem2026-03-10 收录
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For each variant, minor allele frequency (MAF) was determined using European populations in the 1000 genomes project database (52) and gnomAD database (53). CADD Phred score (45); GWAVA Region score (44); Genomiser Variant score (46); SPIDEX dPSI score (22). HGVS, Human Genome Variation Society.

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2017-08-11
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