Fig. 2: Converging rare and common variant associations of TTN with hand grip strength. | Nature Communications

Fig. 2: Converging rare and common variant associations of TTN with hand grip strength.

From: Rare genetic variants impact muscle strength

Fig. 2

a Single PTV association of TTN with hand grip strength. The average effect sizes of each PTV in TTN were plotted against their genomic positions, with exon numbers and protein domains visualized at the bottom. ClinVar pathogenic/likely pathogenic PTVs were colored in red with different shapes indicating their respective associated disease phenotypes. b hand grip strength GWAS locus plot of TTN. P-values were derived from two-sided t-tests implemented in regenie. The purple diamond indicates the sentinel variant at the TTN GWAS locus. SNP IDs label the top 95% credible set identified by SuSiE. Colors indicate different levels of LD with the sentinel variant. Source data are provided in Supplementary Data 10 and the Source Data file.

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