of a transcript. Such SNPs may constitute expression quantitative trait loci (eQTLs), which have profound effects on transcript abundance. However, association of a SNP with a phenotype does not necessitate that the SNP plays a causal role; this may be an indication that the SNP is in linkage disequilibrium (LD) with an unidentified causal variant. Because many variants are not found in conserved protein-coding sequences or may be in LD with unknown sequences, functional studies in human cells are needed to examine the significance of GWAS findings and unravel functionality (see Figure 1 for GWAS to hiPSC-based study pipeline).
