Skip to main content


Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Figure 2 | BMC Genomics

Figure 2

From: The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts

Figure 2

Enrichment of variants associated with inflammatory or autoimmune phenotypes in splicing control regions. We assessed the number of randomly selected variants located in splicing control elements by chance. For each set of 338 ‘index’ SNPs and their proxies, the percentage of variants located in ‘splice region elements’ is given on the X-axis (simulated percentage), and the number of SNPs at each percentage (count) is given on the Y-axis. The observed number of autoimmune or inflammatory SNPs located in ‘splice region elements’ is given by the line.

Back to article page