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. 2022 Mar 2;109(4):647–668. doi: 10.1016/j.ajhg.2022.02.010

Figure 3.

Figure 3

Replication of CNV-GWAS signals in the Estonian Biobank

(A) Estonian Biobank (EstBB; y axis) versus UK Biobank (UKBB; x axis) standardized effect sizes. The identity line is in red; size reflects power at α = 0.05/61; non-significant signals (p > 0.05) are in gray; nominally significant signals (p ≤ 0.05) with 95% confidence intervals are colored according to replication models: mirror (purple), duplication-only (green), or deletion-only (orange); multiple-testing correction surviving signals (p ≤ 8.2 × 10−4) are circled in black and listed in (B) with the first column’s color corresponding to the association model and numbers matching labels in (A).

(B) Effect sizes (β; unit in the effect column) and p values (p) for the UKBB and EstBB GWAS, along with the number of individuals with available phenotypic data carrying a deletion, no CNV, or a duplication overlapping the CNV region. Labels indicate: (1) platelet count—1p36.11 (chr1: 25,599,041–25,648,747); (2) glycated hemoglobin (HbA1c)—1q21.1–1q21.2 (chr1: 146,478,785–147,832,715); (3) height—1q21.1–1q21.2 (chr1: 146,478,785–147,832,715); (4) age at menarche—1q21.1 (chr1: 145,368,664–145,738,611); (5) platelet count—16p11.2 BP2-BP3 (chr16: 28,818,541–29,043,450); (6) weight—16p11.2 BP2-BP3 (chr16: 28,818,541–29,043,450); (7) age at menarche—16p11.2 BP4-BP5 (chr16: 29,596,230–30,208,637); (8) body mass index (BMI)—16p11.2 BP4-BP5 (chr16: 29,596,230–30,208,637); (9) waist-to-hip ratio (WHR)—16p11.2 BP4-BP5 (chr16: 29,596,230–30,208,637); (10) height—16p11.2 BP4-BP5 (chr16: 29,596,230–30,208,637); (11) weight—16p11.2 BP4-BP5 (chr16: 29,596,230–30,208,637); (12) alanine aminotransferase (ALT)—16p11.2 BP4-BP5 (chr16: 29,624,931–30,208,637); (13) age at menopause—16p13.11 (chr16: 15,151,451–16,308,285); (14) age at menarche—16p13.11 (chr16: 15,120,501–16,308,285); (15) serum creatinine (SCr)—17p12 (chr17: 14,098,277–15,468,444); (16) SCr—17q12 (chr17: 34,797,651–36,249,489); (17) C-reactive protein (CRP)—17q12 (chr17: 34,797,651–36,249,489); (18) platelet count—22q11.21 LCR A-D (chr22: 19,024,651–21,174,444); (19) BMI—22q11.21 LCR A-D (chr22: 19,024,651–21,463,515); (20) weight—22q11.21 LCR A-D (chr22: 19,024,651–21,463,545); (21) eosinophil count—22q11.21 LCR B-D (chr22: 20,457,855–21,463,545); (22) γ-glutamyl transferase (GGT)—22q11.23 (chr22: 23,688,345–24,990,213).