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. 2016 Feb 4;3:15067. doi: 10.1038/hgv.2015.67

Table 1. Candidate variants selected for genotyping.

SNP Gene Site Description
rs1127354 ITPA Exon Non-synonymous variants detected by NGS
rs2280090 ADAM33 Exon  
rs17857295 MAVS Exon
rs6115814 ITPA DHS Functional variants detected variants by NGS
rs6116080 PANK2 DHS  
rs6084506 PANK2 DHS  
rs1132922 MAVS 3′-UTR  
     
rs11087570 ITPA Intron TagSNPs covering ITPA gene
rs8362 ITPA Exon  
rs6139034 ITPA Intron  
rs13830 ITPA 3′-UTR Additional variant

Abbreviations: DHS, DNaseI hypersensitivity site; NGS, next-generation sequencing; SNP, single-nucleotide polymorphism; UTR, untranslated region.