Figure 1

GeneSNP-VISTA screenshot for the ABO blood group gene (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1.3.galactosyltransferase). A. Coordinate bar showing gene structure. The ABO gene consists of 23,758 basepairs. Seven exons are displayed as blue rectangles. The red rectangle is a user-selected region. B. SNPs are represented as an array of samples (rows) × polymorphic sites (columns), where each cell is colored based on the SNP classification. Blue is used for individuals homozygous for the common SNP allele, yellow color is used for individuals homozygous for the rare SNP allele, red is for individuals heterozygous for the SNP, and a black dot is used for non-synonymous SNP. C. Clustering results are shown as a hierarchical tree, where each node can be collapsed or expanded. D. Window displaying protein alignment. The display is linked with the non-synonymous SNP selected by the user.