Query gnomAD (Genome Aggregation Database) for population allele frequencies, variant constraint scores (pLI, LOEUF), and loss-of-function intolerance. Essential for variant pathogenicity interpretation, rare disease genetics, and identifying loss-of-function intolerant genes.

查询gnomAD（基因组聚集数据库）以获取人群等位基因频率、变异约束评分（pLI、LOEUF）及功能丧失不耐受信息。对于变异致病性解读、罕见病遗传学研究以及识别功能丧失不耐受基因至关重要。