Table 2.
Variant Highlighted in Previous Study |
Summary Statistics from HDiff and HAid Analysis in the UKBB Cohort |
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Citation | Gene | SNP | CHR | BP | A1 | A0 | INFO | UKBB Phenotype | A1FREQ | BETA | SE | p |
Friedman et al.14 | GRM7 | rs11928865 | 3 | 7155702 | T | A | 0.989 | HDiff | 0.741 | 0.0016 | 0.0015 | 0.28 |
HAid | 0.742 | −0.0014 | 0.0007 | 0.05 | ||||||||
Van Laer et al.12 | IQGAP2 | rs457717 | 5 | 75920972 | A | G | 0.986 | HDiff | 0.326 | 0.0013 | 0.0014 | 0.34 |
HAid | 0.325 | −0.0006 | 0.0007 | 0.37 | ||||||||
GRM7 | rs161927 | 3 | 7838242 | G | A | 0.988 | HDiff | 0.134 | 0.0038 | 0.0019 | 0.05 | |
HAid | 0.136 | −0.0002 | 0.0009 | 0.86 | ||||||||
Girotto et al.17 | DCLK1 | rs248626 | 5 | 141097725 | A | G | 1.000 | HDiff | 0.251 | 0.0018 | 0.0015 | 0.23 |
HAid | 0.252 | −0.0003 | 0.0007 | 0.71 | ||||||||
KCNMB2 | rs4603971 | 3 | 177902467 | G | A | 0.992 | HDiff | 0.934 | −0.0015 | 0.0027 | 0.58 | |
HAid | 0.934 | 0.0006 | 0.0012 | 0.63 | ||||||||
CMIP | rs898967 | 16 | 81566780 | C | T | 0.981 | HDiff | 0.476 | 0.0010 | 0.0013 | 0.45 | |
HAid | 0.476 | 0.0002 | 0.0006 | 0.76 | ||||||||
GRM8 | rs2687481 | 7 | 125869122 | G | T | 0.998 | HDiff | 0.811 | −0.0018 | 0.0017 | 0.28 | |
HAid | 0.810 | 0.0012 | 0.0008 | 0.14 | ||||||||
Nolan et al.19 | ESSRG | rs2818964 | 1 | 216682448 | G | A | 0.978 | HDiff | 0.366 | −0.0015 | 0.0014 | 0.27 |
HAid | 0.366 | 0.0004 | 0.0006 | 0.55 | ||||||||
Wolber et al.15 | SIK3 | rs681524 | 11 | 116748314 | T | C | 0.992 | HDiff | 0.927 | −0.0010 | 0.0026 | 0.71 |
HAid | 0.928 | 0.0018 | 0.0012 | 0.13 | ||||||||
Vuckovic et al.16 | PCDH20 | rs78043697 | 13 | 62467039 | T | C | 0.995 | HDiff | 0.928 | 0.0000 | 0.0025 | 1.00 |
HAid | 0.928 | 0.0010 | 0.0012 | 0.38 | ||||||||
SLC28A3 | rs7032430 | 9 | 86714002 | C | A | 0.959 | HDiff | 0.782 | −0.0013 | 0.0016 | 0.43 | |
HAid | 0.783 | −0.0001 | 0.0008 | 0.91 | ||||||||
Fransen et al.10 | ACVR1B | rs2252518 | 12 | 52381026 | C | A | 0.996 | HDiff | 0.739 | −0.0010 | 0.0015 | 0.50 |
HAid | 0.739 | 0.0001 | 0.0007 | 0.85 | ||||||||
CCBE1 | rs34175168 | 18 | 57180682 | G | A | 0.990 | HDiff | 0.986 | 0.0112 | 0.0056 | 0.04 | |
HAid | 0.986 | −0.0009 | 0.0026 | 0.74 | ||||||||
Hoffman et al.18 | ISG20 | rs4932196 | 15 | 89253268 | T | C | 1.000 | HDiff | 0.809 | 0.0085 | 0.0017 | 4.60E−07 |
HAid | 0.809 | 0.0039 | 0.0008 | 6.40E−07 | ||||||||
TRIOBP | rs5756795a | 22 | 38122122 | T | C | 1 | HDiff | 0.539 | −0.0092 | 0.0013 | 5.10E−12 | |
HAid | 0.538 | −0.0027 | 0.0006 | 1.60E−05 |
Definition of terms: study, publication of previous finding; gene, gene highlighted in the referenced publication as the lead SNP is either located in the gene region or in close proximity; SNP, single-nucleotide polymorphism; CHR, chromosome; BP, base position; A1, effect allele in analysis; A0, reference allele; INFO, quality metric, combination of imputation score and dosage confidence; UKBB phenotype, phenotype used in this study; A1FREQ, frequency of effect allele in analysis sample; BETA, effect size from BOLT-LMM approximation to infinitesimal mixed model; SE, standard error of the effect size; p value, infinitesimal mixed model association test p value.
This study did not analyze SNP rs58389158, but analyzed rs5756795 which is in complete LD with this SNP in the British population, and referenced in the previous study.