Supplementary Figure 4: Regional association plot of the TM6SF2 locus | Nature Genetics

Supplementary Figure 4: Regional association plot of the TM6SF2 locus

From: Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

Supplementary Figure 4

This figure shows a LocusZoom plot of the –log10 P value for association with total cholesterol levels for all markers represented on the exome array in the TM6SF2 region by position on the chromosome. Color-coded linkage disequilibrium (LD) metrics r2 using HapMap CEU values are provided for the most significant association to reflect their LD with the lead SNP. SNPs are functionally annotated coding (square) or other (circle), and lead SNPs are colored purple. (a) GWAS P-values as published by Teslovich et al. (N >100,000)4 showing an absence of data for the TM6SF2 coding variant. (b) Association as observed in Stage 1 samples (N = 5,643) demonstrating the most significant association for the TM6SF2 variant (in purple) and the GWAS variant (in red), with less significant association for the NCAN coding variant (yellow).

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