List of the 73 variants selected for validation.
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https://figshare.com/articles/dataset/List_of_the_73_variants_selected_for_validation_/5582086
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Abbreviations: Chr, Chromosome; Ref, reference allele; Obs, observed allele; HOM, homozygous; HET, heterozygous; Func, variant function; SNPs, single nucleotide variants/polymorphisms; MAF, minor allele frequency; GoNL, Genome of the Netherlands project database, 498 unrelated Dutch individuals; EVS_EA, NHLBI Exome Sequencing Project database, 4,300 European-American unrelated individuals; 1000G, 1000 Genomes Project, 2,500 individuals from about 25 populations around the world; GIFT, Genetics In Familial Thrombosis study, 96 unrelated VTE cases with positive family history of VTE; GoNL, Genome of the Netherlands project database, 498 unrelated Dutch individuals.
创建时间：
2017-11-09
