Figure 3.
The distribution of gnomAD (genome and exome) datasets, genetic variants, and their frequency in RBC antigen-encoding genes. The outer ring (red) represents the RBC antigen-encoding genes, box length represents the number of variants observed, G denotes gnomAD genome frequency, and E denotes gnomAD exome frequency. The outer green (light/dark) circle indicates the distribution of variants frequency across different blood group genes from the gnomAD data. The red (light/dark) circle indicates the number of variants with ISBT associations relative to all gnomAD variants. The blue (light/dark) circle indicates the distribution of rare non-ISBT variants in all 6 populations. The dark gray circle indicates the number of non-ISBT variants annotated to the ClinVar database. The yellow circle shows the distribution of the number of novel variants.

The distribution of gnomAD (genome and exome) datasets, genetic variants, and their frequency in RBC antigen-encoding genes. The outer ring (red) represents the RBC antigen-encoding genes, box length represents the number of variants observed, G denotes gnomAD genome frequency, and E denotes gnomAD exome frequency. The outer green (light/dark) circle indicates the distribution of variants frequency across different blood group genes from the gnomAD data. The red (light/dark) circle indicates the number of variants with ISBT associations relative to all gnomAD variants. The blue (light/dark) circle indicates the distribution of rare non-ISBT variants in all 6 populations. The dark gray circle indicates the number of non-ISBT variants annotated to the ClinVar database. The yellow circle shows the distribution of the number of novel variants.

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