Table 5. SNPs located in the two CNVs regions or outside the two CNVs boundaries and their association signals with ALM.
CNV region | Chr | SNP | Position | Discovery sample | Replication sample | ||||
Allele | MAF | p-value | Allele | MAF | p-value | ||||
CNV1191 | 7 | rs6969250 | 149,923,478 | C/T | 0.23 | NA | C/T | 0.17 | NA |
7 | rs11984138 | 149,931,668 | G/A | 0.24 | 0.77 | G/A | 0.33 | 0.9 | |
7 | rs10271154 | 150,413,004 | C/T | 0.25 | 0.82 | C/T | 0.37 | 0.46 | |
7 | rs4725388 | 150,413,550 | G/A | 0.28 | NA | G/A | 0.55 | NA | |
7 | rs13239507 | 150,415,340 | T/C | 0.28 | NA | T/C | 0.42 | NA | |
7 | rs6464126 | 150,416,254 | C/T | 0.28 | NA | C/T | 0.42 | NA | |
7 | rs11769150 | 150,416,686 | C/T | 0.18 | 0.82 | C/T | 0.14 | 0.02 | |
7 | rs10270107 | 150,417,979 | G/A | 0.26 | NA | G/A | 0.35 | NA | |
7 | rs6957724 | 150,419,237 | C/T | 0.24 | NA | C/T | 0.12 | NA | |
7 | rs11773852 | 150,421,052 | C/T | 0.25 | 0.63 | C/T | 0.22 | 0.98 | |
CNV2580 | 22 | rs4820470 | 41,236,248 | A/G | 0.15 | NA | A/G | 0.05 | - |
22 | rs12485160 | 41,237,563 | C/T | 0.13 | NA | C/T | 0.11 | NA | |
22 | rs5758786 | 41,256,609 | A/A | 0 | – | A/G | 0.02 | – | |
22 | rs4822160 | 41,262,261 | A/G | 0.20 | 0.56 | A/G | 0.19 | 0.99 | |
22 | rs9614207 | 42,898,768 | A/G | 0.42 | NA | A/G | 0.23 | NA | |
22 | rs9614208 | 42,899,411 | G/A | 0.41 | 0.67 | G/A | 0.14 | 0.34 | |
22 | rs7292425 | 42,900,747 | C/A | 0.18 | NA | C/A | 0.34 | NA | |
22 | rs139107 | 42,901,313 | G/A | 0.14 | NA | G/A | 0.16 | NA | |
22 | rs9614362 | 42,903,911 | G/A | 0.30 | 0.96 | G/A | 0.13 | 0.46 | |
22 | rs12483834 | 42,904,365 | C/G | 0.02 | 0.67 | C/G | 0.16 | 0.37 | |
22 | rs139116 | 42,904,875 | T/C | 0.36 | 0.28 | T/C | 0.20 | 0.02 | |
22 | rs2092351 | 42,905,737 | G/A | 0.36 | 0.31 | G/A | 0.33 | 0.18 | |
22 | rs139120 | 42,905,880 | G/A | 0.34 | 0.32 | G/A | 0.17 | 0.02 | |
22 | rs878406 | 42,906,306 | A/T | 0.02 | 0.82 | A/T | 0.19 | 0.32 | |
22 | rs3747208 | 42,907,201 | A/G | 0.10 | NA | A/G | 0.08 | – | |
22 | rs139123 | 42,907,418 | G/A | 0.37 | NA | G/A | 0.36 | NA | |
22 | rs139124 | 42,907,465 | G/A | 0.34 | NA | G/A | 0.15 | NA | |
22 | rs7287117 | 42,907,988 | G/A | 0.02 | – | G/A | 0.18 | NA | |
22 | rs9306473 | 42,908,483 | G/A | 0.002 | – | G/A | 0 | – |
Notes:
NA: the failure of passing the quality control procedure (QC).
–: not available due to low minor allele frequency.
Chr: chromosome.
MAF: minor allele frequency.