There is a consequential decrease in the fraction of link-counts between exon 34A and exon 35 (P = 3.0×10−06) that are unique to the canonical isoform of WDFY4. Interestingly, a known missense variant found in exon 31 of WDFY4, rs7097397 (Arg1816Gln), in strong LD (r2:0.7) with rs2263052, has also been implicated in SLE through GWAS (67); suggesting the risk haplotype may harbour two functional mechanisms influencing WDFY4 (amino-acid change and upregulation of a shorter isoform) that are both involved in pathogenesis. The gene discussed is WDFY4; the disease is systemic lupus erythematosus.