difference in cortical BMD at the femoral midshaft between B6 (1069.6±51.4 mgHA per cm3) and D2 parents (1170.8±39.8 mgHA per cm3) (Fig. 4e,f). In humans, mutations in collagen VI are associated with a variety of musculoskeletal abnormalities21. We performed a matched PheWAS in human using the BioVU resource and linked rs113396273 in exon 3 of COL6A5 (M56T) with osteopenia and other bone and cartilage disorders (P=1.4 × 10−3; logistic regression; Fig. 4g). Like rs113396273, the other SNPs tested in COL6A5 demonstrated similar patterns of associations including respiratory abnormalities and giant cell arteritis.
