Table 1 Copy number deletions associated with traits at experiment-wide or genome-wide significance
Locus chr:position (dbVar ID) | Trait(unit) | Subject No. | Beta(S.E)** | P*** | Genetic model | Cohort | Cohort MAF (Homozygote count:Ref,Del) | gnomAD MAF (gnomAD ID) **** | RefSeq Gene | annotation |
|---|---|---|---|---|---|---|---|---|---|---|
4:10211262–10,234,569 (nssv15888957) | Uric Acid (mmol/L) | 1324 | -0.02(0.00) | 5.23E-11# | recessive | TwinsUK | 0.69(166,842) | 0.68 | WDR1/ ZNF518B | Enhancer |
4:10392422–10,402,191 (nssv15888975) | Uric Acid (mmol/L) | 1324 | 0.02(0.00) | 2.29E-08# | additive | TwinsUK | 0.24(1008,105) | 0.25 | WDR1/ ZNF518B | Enhancer |
18:74347187–74,348,010 (nssv15841628) | ApoA1(g/L)/ | 1470 | -0.13(0.03) | 1.87E-05 | recessive | TwinsUK | 0.29(865,126) | 0.26 | LINC01927 | Intron 3 |
HDL(mmol/L) | 1718 | -0.22(0.04) | 4.15E-07 | |||||||
2:166014696–166,016,748 (nssv15872979) | Leptins(ng/mL) | 964 | -3.24(1.03) | 4.33E-06 | dominant | TwinsUK | 0.11(1379,18) | 0.12 | SCN3A | Intron 9 |
4:98354274–98,359,233 (nssv15893432) | Total lean mass (kg) | 1721 | -1.39(0.28) | 1.42E-06 | dominant | TwinsUK | 0.14(1280,31) | 0.13 | STPG2-AS1 | Intron 1 |
Weight(kg) | 1752 | -3.34(0.72) | 1.36E-05 | |||||||
7:100327594–100,340,799 (nssv15922542) | MCH(pg/cell) | 1575 | -0.37(0.09) | 1.68E-05 | dominant | TwinsUK | 0.29(866,125) | 0.24 | ZAN | LOF(txStart-intron7) |
12:111976297–111,979,993 (nssv15813226) | MCV(fl.) | 1575 | 1.19(0.28) | 1.56E-05 | dominant | TwinsUK | 0.10(1407,17) | 0.07 | ATXN2 | Intron 5 |
6:134589734–134,594,596 (nssv15913056) | Sodium (mmol/L) | 1724 | 3.23(0.98) | 1.74E-05 | recessive | TwinsUK | 0.10(1403,14) | 0.11 | SGK1 | Intron 1 |
11:49759283–49,760,872 (nssv15803200) | Body mass index (kg/m2,15 year) | 1608 | 0.93(0.20) | 1.78E-05 | dominant | ALSPAC | 0.10(1506,18) | 0.09 | GRM5P1 | Intron 2 |
Total Fat Mass (kg,9Â year) | 1703 | 1.39(0.27) | 3.58E-06 | Additive | ||||||
Truncal Fat Mass (kg,9Â year) | 1703 | 0.64(0.13) | 4.56E-06 | Additive | ||||||
11:55031591–55,038,554 (nssv15802240) | Body mass index (kg/m2,15 year) | 1608 | 1.03(0.20) | 1.72E-06 | dominant | ALSPAC | 0.11(1486,25) | 0.11 | TRIM48 | LOF(intron1-exon6) |
Total Fat Mass (kg,9Â year) | 1703 | 1.29(0.26) | 1.31E-05 | additive | ||||||
Truncal Fat Mass (kg,9Â year) | 1703 | 0.60(0.13) | 1.66E-05 | additive | ||||||
8:24972435–24,990,944 (nssv15929560) | Hip circumference (cm,9 year) | 1811 | 1.49(0.32) | 2.75E-06 | dominant | ALSPAC | 0.34(826,218) | 0.35 | DOCK5 | Intergenic |
Total Fat Mass (kg,9Â year) | 1703 | 0.96(0.23) | 2.63E-06 | |||||||
Truncal Fat Mass (kg,9Â year) | 1703 | 0.45(0.11) | 2.15E-06 | |||||||
Weight (kg,9yrs) | 1812 | 1.45(0.33) | 1.48E-05 | |||||||
4:172374416–172,379,428 (nssv15893806) | Triglycerides (mmol/L,9 year) | 1497 | 0.16(0.06) | 1.95E-05 | dominant | ALSPAC | 0.75(104,1034) | 0.74 |  | Intergenic |
VLDL (mmol/L,9Â year) | 1497 | 0.07(0.03) | 1.86E-05 | |||||||
1:234318630–234,319,762 (nssv15849193) | LDL (mmol/L,9 year) | 1497 | 0.16(0.04) | 3.47E-05 | additive | ALSPAC | 0.09(1543,11) | 0.10 | SLC35F3 | Intron 2 |