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Fig. 2 | Genome Medicine

Fig. 2

From: Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1

Fig. 2

Functional annotation of ALS GWAS. A Using the full GWAS summary data, enrichment of association signal is identified in genes expressed in brain tissue using GTEx v8 (n = 54 tissues). B Circos plot of chromosome 5 with the risk locus in blue (middle circle); outer circle shows SNP associations (grey circles) with -log10(p-value) on the Y-axis. The lead SNP (rs10463311) is labelled, and other SNPs are coloured if they are in LD of the lead SNP (yellow to red, low to high r2, see Fig. 3 for detail). Inner circle: The mapped genes are labelled black if chromatin interaction is detected (GM2A, ANXA6, RBM22), and blue if both a chromatin interaction and an eQTL is detected (TNIP1, GPX3)

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