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. 2019 Sep 26;105(4):788–802. doi: 10.1016/j.ajhg.2019.09.008

Table 2.

Summary Statistics from HDiff and HAid GWAS Analysis, at SNPs Highlighted in Previous Adult Hearing Loss GWAS

Variant Highlighted in Previous Study
Summary Statistics from HDiff and HAid Analysis in the UKBB Cohort
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.

a

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.