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. 2015 Nov 17;43(22):10612–10622. doi: 10.1093/nar/gkv1099

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© The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 4. — A personal specific splice junction of ICA1 is linked to GWAS signals of diseases. (A) The schematic gene structure and sequencing chromatogram of the novel personal specific splice junction in ICA1. SNP rs6948664 creates a novel personal 5′ splice site in intron 12 of ICA1, resulting in a novel alternative first exon of ICA1. (B) Linkage disequilibrium (LD) plot of the CEU population indicates that the personal specific splice junction SNP rs6948664 is in perfect LD with the GWAS SNP of systemic lupus erythematous and sclerosis rs4725072 (r² = 1).