Table 2

Genotype–phenotype association analysis for 17q12 microdeletions (n=10) and microduplications (n=100) in participants of European ancestry in the UK Biobank (binary traits)

PhenotypeDeletionsDuplications
ORSE95% CIP valueORSE95% CIP value
Diabetes43.742.0211.06 to 172.942×10−71.371.490.63 to 2.984×10−1
ESRD63.292.758.71 to 459.923×10−39.461.932.61 to 34.319×10−3
eGFR <60213.92.2444.12 to 1036.962×10−98.471.344.76 to 15.051×10−9
eGFR <45121.962.2425.18 to 590.752×10−56.241.652.33 to 16.753×10−3
ID155.942.6922.37 to 1087.026×10−40.3717.231×10−3 to 96.927×10−1
Psych2.011.970.53 to 7.623×10−11.751.231.17 to 2.617×10−3
DD1.491.910.42 to 5.325×10−11.731.231.15 to 2.617×10−3
  • See online supplemental table 1 for phenotype details.

  • DD, developmental delay; eGFR, estimated glomerular filtration rate (mL/min/1.73 m2; Chronic Kidney Disease Epidemiology Collaboration Creatinine-Cystatin 2012); ESRD, end-stage renal disease; GP, General Practitioner; HCP, Health Care Professional; ID, diagnosed intellectual disability; Psych, visit GP or HCP for psychiatric disorder.