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

Table 1.

Independent SNPs Significantly Associated (p < 5 × 10−8) with the Two Phenotypes Regarding Hearing Ability in the UK Biobank Discovery Sample

Chr SNP EA EAF INFO β SE p Value pJ-Value Nearest Gene Distance to Gene (bp) Other Genes within 100 kb
Hearing Difficulty GWAS

22 rs36062310 G 0.96 1.000 −0.0315 0.003 1.90E−22 1.92E−22 KLHDC7B 0 SYCE3, ADM2, ARSA,aCHKB, CPT1B, LMF2, MAPK8IP2, MIOX, NCAPH2, ODF3B, SBF1, SCO2, SYCE3, TYMP
5 rs6453022 C 0.50 1.000 −0.0126 0.001 1.70E−21 2.07E−12 ARHGEF28 0
6 rs759016271 AGTAGTCCACTTTTCTTCTTTGCCTG 0.39 0.997 −0.0127 0.001 6.10E−21 6.16E−21 ZNF318 0 CRIP3, SLC22A7, CUL9, DNPH1, TTBK1
5 rs6890164 A 0.51 0.993 0.0119 0.001 3.30E−19 4.15E−10 ARHGEF28 6177
11 rs7951935 G 0.62 0.996 −0.0114 0.001 7.80E−17 7.85E−17 TYR 1472 NOX4
6 rs35186928 G 0.62 0.991 −0.0109 0.001 1.70E−15 1.69E−15 HLA-DQA1 13352 HLA-DRB1, HLA-DRB3, HLA-DRB5, HLA-DRB6
6 rs9493627 G 0.68 1.000 −0.0104 0.001 1.40E−13 1.41E−13 EYA4a 0
22 rs132929 G 0.59 0.999 −0.0098 0.001 2.20E−13 4.61E−13 BAIAP2L2a 0 SLC16A8, PICK1, PLA2G6, POLR2F
22 rs5756795 T 0.54 1.000 −0.0092 0.001 5.10E−12 1.09E−11 TRIOBPa 0 GALR3, GCAT, GGA1,aH1F0, LGALS1, NOL12, PDXP, SH3BP1
14 rs1566129 T 0.41 1.000 0.0091 0.001 1.40E−11 1.37E−11 NID2 0 GNG2, RTRAF
4 rs35414371 T 0.87 0.998 −0.0131 0.002 1.60E−11 1.64E−11 CLRN2a 1965 LAP3, MED28, QDPR
3 3:182069497_TA_T TA 0.84 0.989 −0.0118 0.002 4.10E−11 4.07E−11 ATP11B 441791
11 rs12225399 G 0.65 0.989 −0.009 0.001 8.60E−11 8.67E−11 PHLDB1 0 ARCN1, IFT46, KMT2A, TMEM25, TREH, TTC36
11 rs55635402 A 0.81 0.996 0.0105 0.002 2.90E−10 2.94E−10 TUBa 0 EIF3F, NLRP10, OR10A3, RIC3
16 rs62033400 A 0.61 0.999 0.0085 0.001 2.90E−10 2.95E−10 FTO 0 RPGRIP1L
8 rs13277721 G 0.49 0.992 −0.0083 0.001 3.30E−10 3.35E−10 AGO2 0 PTK2
2 rs62188635 C 0.45 0.988 0.0083 0.001 4.70E−10 4.72E−10 KLF7 50519
6 rs2236401 C 0.49 0.997 −0.0081 0.001 9.30E−10 9.38E−10 SYNJ2a 0 SERAC1,aGTF2H5
7 rs4947828 T 0.23 0.999 −0.0096 0.002 1.00E−09 1.02E−09 GRB10 0
10 rs6597883 T 0.84 0.989 0.0111 0.002 1.00E−09 1.05E−09 CTBP2 0
5 rs34442808 T 0.49 0.992 −0.008 0.001 1.30E−09 1.32E−09 MCTP1, SLF1 0
10 rs835267 A 0.53 0.996 0.008 0.001 1.60E−09 1.58E−09 EXOC6 0 CYP26A1, CYP26C1
10 rs4948502 T 0.57 0.995 0.0081 0.001 1.70E−09 5.63E−10 ARID5B 0
10 rs10824108 G 0.42 0.999 −0.0079 0.001 3.00E−09 1.24E−08 ADK 0 AP3M1, VCL
1 rs12027345 G 0.57 0.995 0.0079 0.001 3.60E−09 3.64E−09 MAST2 12668 GPBP1L1, MAST2, TMEM69, TMA16P2, GPBP1L1
6 rs217289 G 0.56 0.992 −0.0078 0.001 4.90E−09 4.92E−09 SNAP91 0
3 rs13093972 A 0.55 0.992 −0.0078 0.001 5.50E−09 5.56E−09 ZBTB20 121137
15 rs62015206 C 0.41 1.000 −0.0078 0.001 7.70E−09 7.76E−09 MAPK6 15613 BCL2L10, GNB5
5 rs10475169 A 0.88 1.000 −0.0117 0.002 9.30E−09 9.37E−09 IRX2 190445
17 rs17671352 T 0.38 0.999 0.0078 0.001 1.00E−08 1.43E−08 ACADVL 0 DVL2,aDLG4, ASGR1, CLDN7, CTDNEP1, EIF5A, ELP5, GABARAP, GPS2, NEURL4, PHF23, SLC2A4, YBX2
1 rs7525101 C 0.56 1.000 −0.0075 0.001 1.50E−08 1.45E−08 LMX1Aa 61973
17 rs12938775 G 0.50 1.000 0.0075 0.001 1.60E−08 2.25E−08 PAFAH1B1 0 CLUH, RAP1GAP2
8 rs76837345 A 0.93 0.997 −0.0146 0.003 1.90E−08 1.95E−08 CHMP4C 0 IMPA1, SLC10A5, SNX16, ZFAND1
6 rs9366417 G 0.26 0.993 0.0085 0.002 2.10E−08 2.12E−08 SOX4 291019
8 rs3890736 G 0.63 0.993 −0.0077 0.001 2.20E−08 2.22E−08 GFRA2 15676
10 rs143282422 G 0.99 1.000 −0.0349 0.006 2.40E−08 3.02E−08 CDH23a 0 C10orf105
7 rs9691831 A 0.42 0.995 −0.0074 0.001 3.10E−08 3.11E−08 TMEM213 0 ATP6V0A4,aKIAA1549
11 rs141403654 A 0.98 0.878 −0.0313 0.006 3.50E−08 3.53E−08 AGBL2 0 C1QTNF4, FNBP4, MTCH2, NUP160
18 rs4611552 T 0.78 0.995 −0.0089 0.002 3.60E−08 3.56E−08 CCDC68 9362
13 rs12552 A 0.44 0.994 0.0073 0.001 4.80E−08 4.86E−08 OLFM4 0
1 rs10927035 C 0.35 0.995 −0.0075 0.001 4.90E−08 4.89E−08 AKT3 0 SDCCAG8

Hearing Aid GWAS

5 rs4597943 G 0.51 0.989 −0.0042 0.001 2.10E−11 2.09E−11 ARHGEF28 0
2 rs9677089 A 0.75 0.989 −0.0046 0.001 2.00E−10 1.98E−10 SPTBN1a 0
6 rs9321402 G 0.68 0.999 −0.0042 0.001 3.00E−10 3.02E−10 EYA4a 0
14 rs1566129 T 0.41 1.000 0.0037 0.001 2.50E−09 2.53E−09 NID2 0 RTRAF
3 rs3915060 C 0.27 0.983 0.004 0.001 9.70E−09 9.70E−09 ILDR1a 0 CD86, SLC15A2
10 rs10901863 C 0.73 0.934 −0.004 0.001 2.60E−08 2.65E−08 CTBP2 0
8 rs7823971 C 0.80 0.991 −0.0043 0.001 2.70E−08 2.68E−08 RP11-1102P16.1 0

Definition of terms: Chr., chromosome; SNP, single-nucleotide polymorphism; EA, effect allele; EAF, frequency of effect allele in BOLT-LMM; INFO, quality metric, combination of imputation score and dosage confidence; β, effect size from BOLT-LMM approximation to infinitesimal mixed model; SE, standard error of the effect size; p value, infinitesimal mixed-effects model association test p value; pJ-value, p value from a joint analysis of all the selected SNPs; nearest gene, protein-coding gene in closest proximity to SNP; distance to gene (bp), distance in base pairs between SNP and nearest gene, a value of 0 indicates the SNP lies within the gene; other genes within 100 kb, list of genes within 100 kb of the SNP.

a

Genes previously linked to hearing phenotypes in mice or humans. Two SNPs reached genome-wide significance in the HAid analysis that are in close proximity to HLA-DQA1 on chr 6 (Figure 2) but were not present in conditional analysis results.