Table 2.

PheWAS in the 23andMe Dataset Identified Phenotypes Significantly Associated with UPD of Chromosomes 6 and 22

UPD Type	Phenotype	Effect Size (95% CI)	p Values (Uncorrected)
UPD6	weight	−2.02 (−3.38 −0.65)	0.0038
UPD6	height	−1.99 (−3.40 −0.59)	0.0055
UPD22	autism spectrum	3.61 (1.93 5.30)	2.557 × 10−5

Only traits with at least two case subjects (or two measurements for quantitative traits) are shown; the full list of all associations is shown in Table S4. Effect sizes shown are odd ratios. We tested for association between UPD on each of the autosomes and 208 self-reported phenotypes (Tables S2 and S3) across five categories (cognitive, personality, morphology, obesity, and metabolic traits). We uncover associations between UPD of chromosome 6 and weight and height, and UPD of chromosome 22 and autism spectrum (p value < 0.01); we note that none of these associations remain significant after Bonferroni correction for the number of phenotypes (208) and chromosomes (22) tested.