Table 2 Association of sequence variants with ARHI.
Model | P-value | OR | rs name | Chrom | Position | EA | OA | Gene | Variant annotation | EAF ice (%) | EAF UK (%) |
---|---|---|---|---|---|---|---|---|---|---|---|
A | 5.7 × 10−27 | 4.20 | – | 17 | 75927880 | FBF1* | CDS tdup | 0.22 | 0 | ||
A | 8.0 × 10−14 | 1.32 | rs146694394 | 6 | 158071628 | T | C | SYNJ2 | Missense | 0.37 | 0.46 |
A | 1.8 × 10−13 | 1.28 | rs141952919 | 7 | 103421378 | G | A | SLC26A5 | Missense | 0.33 | 0.52 |
A | 5.9 × 10−13 | 6.59 | rs761934676 | 16 | 2497068 | G | A | TBC1D24 | Missense | 0 | 0.01 |
A | 5.1 × 10−11 | 1.08 | rs113784020 | 11 | 118689022 | T | C | [PHLDB1] | Intergenic | 3.75 | 4.27 |
A | 2.5 × 10−10 | 1.92 | rs749405486 | 22 | 50549067 | A | AG | KLHDC7B | Frameshift | 0.00 | 0.06 |
A | 4.9 × 10−13 | 0.95 | rs72622588 | 3 | 182285702 | T | G | [FLJ46066] | Intergenic | 10.73 | 10.81 |
A | 6.5 × 10−10 | 1.20 | rs143796236 | 17 | 81528943 | T | C | FSCN2* | Missense | 0.21 | 0.74 |
A | 7.6 × 10−10 | 1.03 | rs13171669 | 5 | 149221680 | G | A | ABLIM3 | Intron | 42.92 | 42.34 |
A | 1.2 × 10−9 | 1.03 | rs3014246 | 1 | 45620405 | C | T | CCDC17 | Missense | 27.01 | 29.64 |
A | 1.6 × 10−9 | 1.03 | rs920701 | 13 | 75842965 | C | T | LMO7 | Intron | 34.91 | 36.67 |
A | 3.9 × 10−9 | 0.97 | rs11881070 | 19 | 2389142 | T | C | TMPRSS9 | upstream gene | 30.15 | 28.79 |
A | 4.9 × 10−8 | 1.81 | rs764272881 | 20 | 3228565 | G | A | SLC4A11 | Missense | 0.45 | 0 |
A | 4.1 × 10−8 | 71.17 | rs765488721 | 17 | 61403195 | T | C | TBX2* | Stop-gained | 0.01 | 0 |
A | 8.3 × 10−8 | 1.49 | rs727503493 | 21 | 42389042 | T | TG | TMPRSS3 | Frameshift | 0.22 | 0.07 |
R | 1.7 × 10−22 | 3.65 | rs118174674 | 18 | 46557437 | T | C | LOXHD1 | Missense | 2.95 | 1.99 |
R | 3.2 × 10−11 | 1.05 | rs9394952 | 6 | 43433367 | G | A | ABCC10 | Splice region | 49.99 | 48.13 |
R | 7.7 × 10−11 | 2.35 | rs12784122 | 10 | 80649861 | A | G | SH2D4B* | Downstream gene | 2.66 | 2.29 |
R | 3.5 × 10−10 | 17.32 | rs139123090 | 10 | 126459169 | A | G | C10orf90* | Missense | 0.89 | 0.47 |
R | 3.2 × 10−9 | 0.94 | rs557563970 | 1 | 117960109 | CGT | C | WDR3 | 3 prime UTR | 21.76 | 41.74 |
R | 1.2 × 10−8 | 4.79 | rs74543584 | 11 | 118262596 | A | T | MPZL2 | Missense | 1.47 | 0.83 |