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. 2019 Apr 29;15(4):e1008081. doi: 10.1371/journal.pgen.1008081

Table 2. Genome-wide significant sliding windows identified by various tests in the UK10K TWINSUK cohort and replication in the ALSPAC cohort of UK10K.

Significant p-values are in boldface; only significant p-values in the ALSPAC cohort were reported (TWINSUK p-value/ALSPAC p-value shaded when both are significant). cMAF: cumulative minor allele frequency. Base pair (bp) position based on reference genome hg19.

Trait Chr Start position- Stop position (bp) Gene(s) cMAF # SNVs p-Values
Globally weighted Not globally weighted aSPU
_minP
aSPUw
_minP
aSPU FST
(combined)
SKAT T5
wtFun-SPU wtFun -SPUw Fun-SPU Fun-SPUw
HDL 1 39,070,016–39,080,016 Intergenic 0.14/0.33 39/38 4.3e-2 2.3e-3 3.3e-2 <1e-8 2.0e-2 3.2e-6 3.6e-2 1.2e-3 5.2e-2 2.0e-4
HDL 2 173,903,159–173,913,159 RAPGEF4 0.084/0.21 33/31 <1e-8 <1e-8 2.4e-6 <1e-8 4.9e-6 8.9e-6 2.4e-5 2.5e-6 1.1e-6 1.2e-4
HDL 3 63,804,000–63,814,000 C3orf49 0.02/0.17 37/36 2.9e-3 <1e-8 4.0e-2 1.8e-5 3.1e-2 4.5e-5 0.12 3.2e-3 1.6e-2 5.2e-2
HDL 5 6,548,648–6,558,648 Intergenic 0.001/0.32 59/59 0.13 <1e-8 0.18 <1e-8 6.2e-2/ <1e-4 <1e8/<1e4 0.15 2.0e-5 2.1e-3 0.19
HDL 5 6,557,398–6,567,398 Intergenic 0.34/0.26 48/43 4.3e-2 1.5e-2 0.13 <1e-8 9.5e-3 <1e-8/ 0.24 1.2e-8 1.8e-2 0.81
LDL 3 102,287,400–102,297,400 Intergenic 0.25/0.19 56/39 4.4e-5 9.9e-3 <1e-8 3.6e-2 9.0e-6 1.3e-2 8.1e-6 1.3e-4 2.5e-5 4.5e-3
LDL 3 102,427,400–102,437,400 Intergenic 0.16/0.27 32/40 <1e-8 5e-8 <1e-8 1.3e-3 1.2e-6/ <1e-4 5.1e-5 2.5e-4 3.3e-7 1.3e-4 0.68
LDL 5 43,259,958–43,269,958 NIM1K 0.43/0.29 41/46 9e-8 <1e-8 6.5e-7 3.0e-7 1.7e-5/ <1e-4 8.2e-6 2.5e-5 1.5e-5 2.4e-3 4.4e-6
LDL 12 13,771,517–13,781,517 GRIN2B 0.18/0.23 43/48 3.5e-3 5.8e-4 0.80 3.5e-5 5.9e-6 1.7e-6 0.60 2.4e-11 0.23 0.96
LDL 12 13,780,267–13,790,267 GRIN2B 0.26/0.27 45/43 6.0e-2 8.0e-4 0.47 1.3e-4 1.0e-6 1.7e-6 0.33 2.0e-11 4.9e-2 0.53
LDL 19 45,387,096–45,397,096 PVRL2/ TOMM40 0.21/ 0.22 33/ 37 5.4e-2/ 1.8e-3 0.10 3.5e-7/ <1e-4 5.0e-3/ 1.6e-3 2.1e-7/ <1e-4 4.5e-3 5.0e8/<1e4 2.4e-4 2.4e-4/ 7.9e-6 0.25
LDL 19 45,395,846–45,405,846 TOMM40 0.42/0.59 65/62 8.6e-3/ <1e-4 8.6e-2 3.0e8/<1e4 1.4e-4/ 1.9e-3 <1e8/<1e4 5.8e-5/ <1e-4 5.0e-7 1.2e-4/ 1.0e-10 4.7e-4/ 1.1e-6 0.28
LDL 19 45,439,596–45,449,596 APOC4-APOC2 0.37/0.18 25/25 <1e8/<1e4 1.1e-4 1.2e-6/ <1e-4 6.9e-4 2.1e-5/ <1e-4 1.4e-4 2.3e-4 4.7e-5/ 2.4e-7 1.1e-3/ 9.0e-4 0.15
BMI 3 35,619,294–35,629,294 Intergenic 0.24/0.24 39/40 <1e-8 4.2e-5 5.0e-5 1.1e-4 3.9e-5 3.6e-5 8.0e-5 2.9e-6 4.4e-5 1.5e-5
BMI 4 22,825,237–22,835,237 Intergenic 0.18/0.24 47/48 1.3e-3 5.2e-5 1.8e-3 6.0e-5 1.6e-4 3.4e-4/ <1e-4 2.8e-3 2.6e-8 1.4e-6 3.0e-5
BMI 10 13,937,041–13,947,041 FRMD4A 0.28/0.30 49/53 8.5e-2 2.4e-3 0.16 1.4e-4 5.9e-4 2.4e-4 0.18 1.9e-8 0.12 7.2e-2
BMI 12 26,179,017–26,189,017 RASSF8 0.38/0.40 37/37 7.5e-2 1.2e-4 0.12 4.4e-4 2.1e-4 3.5e-4/ <1e-4 0.12 7.5e-8 6.6e-2 2.1e-4
BMI 15 42,935,528–42,945,528 STARD9 0.28/0.23 43/56 <1e-8 2.7e-6 <1e-8 1.2e-5 2.1e-6 4.5e-5 1.2e-6 4.8e-7 8.4e-8 1.1e-7
BMI 16 60,159,304–60,169,304 Intergenic 0.27/0.12 29/28 4.3e-4 <1e-8 2.5e-2 2.1e-4 6.1e-4/ <1e-4 6.4e-6/ <1e-4 5.1e-3 1.4e-5 0.15 3.0e-4
BMI 21 40,851,354–40,861,354 SH3BGR 0.26/0.17 32/26 4.4e-4 <1e-8 2.5e-3 1.1e-4 1.3e-3 6.7e-5 /2.6e-3 1.2e-3 3.9e-4 1.5e-2 3.4e-4
SBP 4 118,855,917–118,865,917 Intergenic 0.36/0.16 32/27 5.5e-2 <1e-8 0.68 8.1e-5 5.2e-2 4.2e-5/ <1e-4 0.75 2.5e-2 0.39 0.34
SBP 6 42,558,580–42,568,580 UBR2 0.96/0.095 28/22 <1e-8 1.3e-4 3.4e-4 5.6e-4 1.1e-6 1.6e-4 3.9e-4 1.7e-6 2.7e-3 7.8e-5
SBP 6 121,241,282–121,251,282 Intergenic 0.50/0.23 53/46 <1e-8 1.8e-4 1.2e-4 1.4e-3 1.6e-4 2.1e-3/ <1e-4 5.5e-4 3.0e-4 1.1e-4 7.0e-4
SBP 11 38,236,659–38,246,659 Intergenic 0.60/0.48 61/61 <1e-8 1.4e-4 8.6e-5 6.4e-6 2.1e-5 1.9e-4 3.8e-3 4.4e-6 8.5e-3 0.36

Significance threshold: p<1.56×10−7 for TWINSUK and p<2×10−3 for ALSPAC