Table 2.
Summary of SNPs associated with ARHI measured by BEHLs and PTA in GWAS (P value < 1 × 10−5).
| Traits | SNP | CHR | BP | P value | Closest genes or genes |
|---|---|---|---|---|---|
| BEHL, by frequency (kHz) | |||||
|
| |||||
| 0.5 | rs237076# | 20 | 5810831 | 6.25E-07 | C20orf196 |
| rs6790988 | 3 | 170263320 | 1.80E-06 | CLDN11 | |
| rs55705402∗ | 20 | 5828630 | 2.15E-06 | C20orf196 | |
| rs55827353∗ | 20 | 5826245 | 2.15E-06 | C20orf196 | |
| kgp8299849 (rs77570135) | 10 | 123472528 | 2.84E-06 | LOC440700 | |
| rs10753110 | 1 | 175869554 | 4.68E-06 | LOC107985228 | |
| rs9293725 | 5 | 77177468 | 5.48E-06 | LOC101929154 | |
| rs1908968 | 4 | 143268702 | 7.89E-06 | INPP4B | |
| rs12194558 | 6 | 153106506 | 9.11E-06 | LOC105378065 | |
|
| |||||
| 1.0 | rs2662482# | 5 | 115358663 | 2.93E-07 | LVRN (also known as AQPEP) |
| kgp928895 (rs201156432) | 22 | 43742432 | 3.35E-07 | SCUBE1 | |
| rs2560690∗ | 5 | 115354702 | 4.07E-06 | LVRN (also known as AQPEP) | |
| rs2662464∗ | 5 | 115356017 | 4.07E-06 | LVRN (also known as AQPEP) | |
| rs73166130 | 22 | 43746132 | 4.17E-06 | SCUBE1 | |
| rs35577903 | 1 | 209277772 | 5.68E-06 | LOC105372895; LOC107985255 | |
| rs9460076 | 6 | 170517603 | 7.49E-06 | RPL12P23 | |
| rs11106865 | 12 | 93515552 | 7.73E-06 | LOC643339 | |
| rs2560687∗ | 5 | 115360342 | 7.90E-06 | LVRN (also known as AQPEP) | |
| rs11108973 | 12 | 97721824 | 1.01E-05 | LINC02409 | |
|
| |||||
| 2.0 | rs6633657 | 23 | 22836669 | 1.19E-08 | PTCHD1-AS |
| rs1974517 | 23 | 22837661 | 6.64E-07 | PTCHD1-AS | |
| rs2234456# | 11 | 5529139 | 9.81E-07 | UBQLN3 | |
| rs1498482∗ | 11 | 5483235 | 1.08E-06 | OR51B5 | |
| rs10838135∗ | 11 | 5473913 | 1.11E-06 | OR51B5; OR51I2 | |
| rs12420260∗ | 11 | 5473418 | 1.11E-06 | OR51B5; OR51I2 | |
| rs1603776∗ | 11 | 5479891 | 1.11E-06 | OR51B5 | |
| rs7801592 | 7 | 85187817 | 1.13E-06 | LINC00972 | |
| rs66808307 | 7 | 85199500 | 1.13E-06 | LINC00972 | |
| rs73189269 | 7 | 85199160 | 1.13E-06 | LINC00972 | |
| rs112837279 | 7 | 85203112 | 1.13E-06 | LINC00972 | |
| rs11037503∗ | 11 | 5475597 | 1.23E-06 | OR51B5; OR51I2 | |
| rs5029981 | 3 | 186438314 | 1.47E-06 | KNG1 | |
| rs6950989 | 7 | 85197091 | 1.52E-06 | LINC00972 | |
| kgp22739604 (rs6629497) | 23 | 22846422 | 1.53E-06 | PTCHD1-AS | |
| rs630428 | 4 | 38121363 | 1.64E-06 | TBC1D1 | |
| rs17584191 | 5 | 125533130 | 1.79E-06 | LINC02039 | |
| rs3763747 | 10 | 61412335 | 1.94E-06 | SLC16A9 | |
| kgp22746837 (rs12688139) | 23 | 22834788 | 2.04E-06 | PTCHD1-AS | |
| rs2242206 | 10 | 61414011 | 3.36E-06 | SLC16A9 | |
| rs1007490 | 23 | 22835253 | 3.73E-06 | PTCHD1-AS | |
| rs12412363 | 10 | 130571475 | 4.23E-06 | LOC105378555 | |
| rs1972703 | 3 | 186463343 | 5.49E-06 | KNG1 | |
| kgp9174891 (rs201551669) | 5 | 125549376 | 6.32E-06 | LINC02039 | |
| rs3827672 | 9 | 115924811 | 6.50E-06 | SLC31A2 | |
| rs12106130 | 20 | 15616247 | 6.65E-06 | MACROD2 | |
| rs4948351 | 10 | 61425189 | 6.70E-06 | SLC16A9 | |
| kgp22769801 (rs6629500) | 23 | 22847169 | 6.77E-06 | PTCHD1-AS | |
| rs17160047 | 7 | 85203213 | 6.88E-06 | LINC00972 | |
| rs7729369 | 5 | 125544313 | 6.92E-06 | LINC02039 | |
| rs7101919∗ | 11 | 5510688 | 7.30E-06 | OR51B5; OR52D1 | |
| rs10826342 | 10 | 61433292 | 7.40E-06 | SLC16A9 | |
| rs1171606 | 10 | 61434519 | 7.40E-06 | SLC16A9 | |
| kgp1872947 (rs199963695) | 8 | 96237951 | 7.64E-06 | LINC01298 | |
| rs7728158 | 5 | 125602203 | 7.88E-06 | LOC101927488 | |
| rs6135472 | 20 | 15618014 | 7.98E-06 | MACROD2 | |
| rs4638331∗ | 11 | 5511431 | 8.21E-06 | OR51B5; OR52D1 | |
| rs72881227∗ | 11 | 5498649 | 8.33E-06 | OR51B5 | |
| rs4509290 | 8 | 96237596 | 8.49E-06 | LINC01298 | |
| rs56394481 | 13 | 110019360 | 8.53E-06 | LOC105370359 | |
| rs4293213 | 12 | 23923620 | 9.62E-06 | SOX5 | |
| rs11592061 | 10 | 3132945 | 9.70E-06 | PFKP | |
|
| |||||
| 4.0 | rs10850913# | 12 | 110312232 | 1.05E-06 | GLTP |
| rs35515683 | 6 | 113848824 | 5.20E-06 | LINC02541 | |
| rs10872099 | 6 | 113926484 | 5.39E-06 | LINC02541 | |
| rs80050647 | 10 | 7877888 | 5.40E-06 | TAF3 | |
| rs7145420 | 14 | 101915881 | 7.77E-06 | LINC02314 | |
| kgp3400527 (rs79297719) | 10 | 91681180 | 8.39E-06 | LINC01375; LOC105378425 | |
|
| |||||
| 8.0 | rs2292354∗ | 12 | 110368201 | 9.08E-06 | GIT2 |
| rs2096982# | 6 | 162660989 | 5.44E-07 | PARK2 | |
| rs952388∗ | 6 | 162716541 | 7.04E-07 | PARK2 | |
| rs2309938 | 2 | 101699594 | 1.01E-06 | TBC1D8 | |
| rs13388167 | 2 | 101724667 | 1.89E-06 | TBC1D8 | |
| rs718772 | 22 | 30504207 | 2.61E-06 | HORMAD2 | |
| rs9625919 | 22 | 30500958 | 2.84E-06 | HORMAD2 | |
| rs11080090 | 17 | 27502029 | 3.70E-06 | MYO18A | |
| rs10945825∗ | 6 | 162809009 | 4.27E-06 | PARK2 | |
| rs10945826∗ | 6 | 162811902 | 4.31E-06 | PARK2 | |
| rs10455904∗ | 6 | 162820082 | 4.31E-06 | PARK2 | |
| rs2247304 | 12 | 96424665 | 4.36E-06 | LTA4H | |
| rs12598984 | 16 | 82521687 | 6.10E-06 | LOC101928392 | |
| rs12143791 | 1 | 178071170 | 6.55E-06 | RASAL2 | |
| rs10455908∗ | 6 | 162843312 | 7.38E-06 | PARK2 | |
| rs7745460 | 6 | 119396199 | 7.79E-06 | FAM184A | |
| rs10871427 | 16 | 82521530 | 8.35E-06 | LOC101928392 | |
| rs2357161 | 6 | 119412952 | 8.63E-06 | FAM184A | |
|
| |||||
| PTA | rs10850913# | 12 | 110312232 | 2.34E-06 | GLTP |
| rs4565962 | 12 | 110264903 | 2.57E-06 | TRPV4 | |
| rs2292354∗ | 12 | 110368201 | 5.02E-06 | GIT2 | |
| rs11931969 | 4 | 22235368 | 5.07E-06 | LOC100505912 | |
| rs2309938 | 2 | 101699594 | 9.56E-06 | TBC1D8 | |
kgp: 1000 genomes project; #: represented the top signals illustrated in the regional association plots for BEHLs at each frequency and for PTA; ∗: represented the SNPs showing linkage disequilibrium (LD) with the top signals for BEHLs at each frequency and for PTA.