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. Author manuscript; available in PMC: 2017 Nov 22.
Published in final edited form as: Nat Genet. 2017 May 22;49(7):986–992. doi: 10.1038/ng.3865

Table 1. Properties of datasets and estimates of hSNP2.

n = sample size (cases + controls), m = number of SNPs, Σj=1mwj = sum of SNP weights which can be interpreted as an effective number of independent SNPs. All values are post quality control; values for m and Σwj are rounded to the nearest K (thousand). For UCLEB, m and Σwj refer to our main analysis, which considers only high-quality, common SNPs. The final column provides our best estimates of hSNP2 from common SNPs, computed using LDAK with α = 0.25 (see main text for explanation of α). For comparison, we include previously published estimates of hSNP2 (note that the previous analyses for rheumatoid arthritis, type 1 diabetes and multiple sclerosis excluded major histocompatibility SNPs, which we estimate contribute 0.07, 0.20 and 0.05, respectively), as well as hGWAS2, the proportion of phenotypic variance explained by SNPs reported as GWAS significant (P < 5 × 108). For disease traits, estimates of hSNP2 and hGWAS2 have been converted to the liability scale assuming the stated prevalence.

Collection Trait (Disease Prevalence, %) n m Σj=1mwj hGWAS2 Estimates of hSNP2 (SD)
Previous LDAK

Welcome Trust Case Control Consortium 1 (WTCCC 1) Bipolar Disorder (0.5) 1 840 + 2 913 3 729 K 79 K 0.02 0.24 (0.04)7 0.35 (0.03)
Coronary Artery Disease (6) 1 907 + 2 918 3 738 K 80 K 0.03 0.25 (0.06)7 0.40 (0.06)
Crohn’s Disease (0.5) 1 691 + 2 905 3 723 K 79 K 0.21 0.26 (0.01)16 0.32 (0.03)
Hypertension (5) 1 918 + 2 916 3 739 K 80 K <0.01 0.33 (0.06)7 0.46 (0.06)
Rheumatoid Arthritis (0.5) 1 846 + 2 918 3 735 K 80 K 0.19 0.09 (0.03)7 0.21 (0.03)
Type 1 Diabetes (0.5) 1 941 + 2 907 3 731 K 80 K 0.27 0.13 (0.03)7 0.31 (0.02)
Type 2 Diabetes (8) 1 896 + 2 917 3 735 K 80 K 0.08 0.42 (0.07)7 0.54 (0.07)

Welcome Trust Case Control Consortium 2 (WTCCC 2) Barrett’s Oesophagus (1.6) 1 861 + 5 138 4 830 K 116 K <0.01 0.25 (0.05)17 0.32 (0.04)
Ischaemic Stroke (2) 3 769 + 5 139 4 797 K 115 K <0.01 0.25 (0.03)18 0.34 (0.03)
Parkinson’s Disease (0.2) 1 687 + 5 136 4 819 K 116 K 0.03 0.27 (0.05)19 0.20 (0.03)
Psoriasis (0.5) 2 267 + 5 143 4 814 K 116 K 0.21 0.35 (0.06)20 0.34 (0.02)
Schizophrenia (1) 2 068 + 2 615 3 481 K 111 K 0.07 0.23 (0.01)21 0.30 (0.04)
Ulcerative Colitis (0.2) 2 614 + 5 327 4 061 K 115 K 0.12 0.19 (0.01)16 0.28 (0.02)

WTCCC 2 + Celiac Disease (1) 2 492 + 7 376 3 681 K 88 K 0.29 0.33 (0.04)22 0.35 (0.02)
Multiple Sclerosis (0.1) 8 553 + 5 667 4 702 K 113 K 0.17 0.17 (0.01)7 0.24 (0.01)
Partial Epilepsy (0.3) 1 217 + 5 152 3 399 K 108 K <0.01 0.33 (0.05)3 0.27 (0.04)

RPTB Pulmonary Tuberculosis (4) 5 142 + 5 283 3 987 K 102 K <0.01 None Found 0.26 (0.03)
Blue Mountain Intraocular Pressure 2 235 4 149 K 125 K 0.02 None Found 0.38 (0.17)
CHOP Wide-Range Achievement Test 3 747 3 593 K 88 K <0.01 0.43 (0.10)23 0.21 (0.09)

UCLEB 23 Quantitative Traits 6 458 to 11 005 353 K 39 K --- Supplementary Table 1