Table 2.
Summary of GWAS and MAGMA results for significant genes.
| Gene | Genomic positions (GRCh38) rsID | Consequences | Allele frequencies | GWAS (AML_adjusted) | SuSiE PIP | LD- pruned status | MAGMA (17 genes)§ | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| gnomADg v.4.1 database | thADg database# | log (OR) (95% CI) | P-value | SNPs | p-value | FDR | |||||
| BBS1 |
chr11:66524089:A: G rs1791683 |
Intron variant | 0.65 | 0.57 | 8.78 (5.22,12.34) | 0.00081 | 100.0% | YES | 5 | 0.002 | 0.020 |
|
chr11:66532992:G: A rs1791686 |
3 prime UTR variant | 0.34 | 0.48 | − 8.05 (− 11.6,− 4.5) | 0.00206 | 33.13% | – | ||||
|
chr11:66514067:A: G rs1671062 |
Intron variant | 0.66 | 0.52 | − 8.05 (− 11.6,− 4.5) | 0.00206 | 33.13% | YES | ||||
|
chr11:66532044:A: G rs8432 |
3 prime UTR variant | 0.66 | 0.52 | − 8.05 (− 11.6,− 4.5) | 0.00206 | 33.13% | – | ||||
| C1QL2 |
chr2:119158737:T: A rs2121217 |
5 prime UTR variant | 0.20 | 0.58 | 6.79 (3.97,9.61) | 0.00106 | 22.81% | – | 2 | 0.001 | 0.020 |
|
chr2:119157933:G: T rs1317848 |
Synonymous variant | 0.20 | 0.58 | 6.79 (3.97,9.61) | 0.00106 | 22.81% | YES | ||||
| RSPH4A |
chr6:116633023:T: C rs784136 |
Downstream gene variant | 0.21 | 0.13 | 8.42 (5.21,11.62) | 0.00036 | 10.90% | – | 6 | 0.001 | 0.020 |
| RWDD1 |
chr6:116578159:C: G rs7757967 |
Intron variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 21.14% | – | 8 | 0.001 | 0.020 |
|
chr6:116591572:A: C rs4142086 |
Intron variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 21.14% | – | ||||
|
chr6:116597448:G: A rs1062353 |
3 prime UTR variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 9.37% | – | ||||
|
chr6:116577253:A: C rs7752566 |
Intron variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 21.14% | YES | ||||
|
chr6:116580477:G: A rs1321534 |
intron variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 21.14% | – | ||||
|
chr6:116587423:G: A rs4946184 |
Intron variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 21.14% | – | ||||
|
chr6:116598041:T: G rs6915260 |
Downstream gene variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 9.37% | – | ||||
|
chr6:116602586:T: C rs6912594 |
Downstream gene variant | 0.81 | 0.87 | 8.76 (5.35,12.16) | 0.00047 | 9.37% | – | ||||
| TOM1L1 |
chr17:54923631:T: C rs7224810 |
Intron variant | 0.99 | 0.73 | 7.15 (3.77,10.53) | 0.00406 | 4.69% | – | 13 | 0.004 | 0.041 |
|
chr17:54921706:C: G rs2958910 |
Intron variant | 0.98 | 0.73 | 7.17 (3.84,10.5) | 0.00347 | 5.08% | YES | ||||
|
chr17:54909364:A: G rs4372751 |
Intron variant | 0.68 | 0.73 | 7.99 (4.59,11.39) | 0.00141 | 8.04% | YES | ||||
|
chr17:54946668:C: G rs2908862 |
Intron variant | 0.99 | 0.80 | 7.95 (4.53,11.38) | 0.00162 | 7.48% | YES | ||||
|
chr17:54911699:A: T rs7222890 |
Intron variant | 0.69 | 0.72 | 7.99 (4.59,11.39) | 0.00141 | 8.04% | – | ||||
|
chr17:54942935:A: G rs2958947 |
Intron variant | 0.98 | 0.73 | 7.15 (3.77,10.53) | 0.00406 | 4.69% | – | ||||
| TTC7B |
chr14:90719101:C: A rs10150862 |
Intron variant | 0.63 | 0.30 | 8.78 (5.59,11.97) | 0.00018 | 4.84% | – | 95 | 0.001 | 0.020 |
|
chr14:90675084:A: G rs12894664 |
Intron variant | 0.53 | 0.71 | 9.22 (5.9,12.54) | 0.00016 | 5.12% | YES | ||||
|
chr14:90675492:A: G rs753310 |
Intron variant | 0.53 | 0.71 | 10.32 (6.85,13.79) | 5.00E−05 | 6.55% | – | ||||
|
chr14:90814720:G: A rs1286305 |
Intron variant | 0.38 | 0.49 | 3.89 (1.51,6.26) | 0.02603 | 4.52% | – | ||||
|
chr14:90719154:C: T rs12896077 |
Intron variant | 0.38 | 0.27 | 8.93 (5.66,12.19) | 0.0002 | 5.33% | – | ||||
|
chr14:90813113:A: C rs1286306 |
Intron variant | 0.33 | 0.49 | 3.89 (1.51,6.26) | 0.02603 | 4.52% | YES | ||||
This table details variants within MAGMA-significant genes, including genomic positions, rsIDs, consequences, allele frequencies (gnomADg and thADg), GWAS statistics (log (OR), 95% CI, p-value), SuSiE posterior inclusion probabilities (PIP), LD-pruned status, and gene-level MAGMA p-values with FDR correction. Lead variants per gene are highlighted for clarity. Derived allele frequencies were obtained from the ThaiGeR database (https://thaiger.genomicsthailand.com). MAGMA p-values were FDR-corrected for multiple testing. Full details of the gene sets tested are provided in Supplementary Tables 1–2.