Table 1.
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.
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.