Table 1.
Top SNPs with p values below 1E−15 in UKBB GWAS of AD PRS extremes and not associated with AD in the base GWAS.
CHR | Position | Genomic locus | SNP | Nearest gene | MAF | OR [95% CI] | p value |
---|---|---|---|---|---|---|---|
1 | 50861622 | 5 | rs7553439 | HMGB1P45 | 0.23 | 0.86 [0.84–0.9] | 2.71E−16 |
2 | 65053188 | 31 | rs62137344 | Y_RNA (SERTAD2, SLC1A4) | 0.12 | 0.82 [0.78–0.86] | 7.43E−19 |
3 | 50204745 | 48 | rs3774745 | SEMA3F | 0.47 | 0.87 [0.85–0.9] | 3.85E−21 |
3 | 84464459 | 53 | 3:84464459_GA_G | AC107025.1 | 0.42 | 0.89 [0.86–0.91] | 7.41E−16 |
5 | 139741370 | 89 | rs717097 | SLC4A9 | 0.47 | 0.87 [0.85–0.9] | 1.33E−20 |
6 | 26907831 | 95 | rs9379945 | GUSBP2 | 0.15 | 1.2 [0.14–0.22] | 5.19E−18 |
6 | 28750876 | 95 | rs200690674 | NOL5BP | 0.1 | 1.26 [0.18–0.28] | 8.67E−20 |
6 | 28790373 | 95 | rs146924495 | LINC01623/XXbac-BPG308K3.5 | 0.18 | 1.23 [0.17–0.25] | 3.66E−26 |
6 | 29379304 | 95 | rs3117190 | OR5V1 | 0.84 | 0.84 [0.81–0.87] | 3.58E−18 |
6 | 29604264 | 95 | rs9461540 | SUMO2P1 | 0.13 | 0.83 [0.79–0.86] | 4.62E−18 |
6 | 31221299 | 95* | rs17197839 | HLA-C | 0.13 | 0.76 [0.73–0.79] | 5.70E−34 |
6 | 57121684 | 103 | rs6904307 | RAB23 | 0.11 | 1.24 [1.19–1.3] | 6.18E−21 |
6 | 57922673 | 103 | rs6916215 | RBBP4P3 | 0.28 | 1.15 [1.11–1.18] | 3.28E−16 |
6 | 58677437 | 103 | rs2693062 | RP11-143A22.1/AL445250.1 | 0.33 | 0.84 [0.82–0.87] | 1.08E−27 |
6 | 62101394 | 104 | rs62425025 | AL356131.1 | 0.42 | 1.16 [1.12–1.19] | 3.86E−22 |
6 | 63162857 | 104 | rs9360446 | RP11-448N11.1 | 0.34 | 0.86 [0.83–0.89] | 2.35E−22 |
6 | 63820771 | 104 | 6:63820771_AC_A | RP11-184C23.1 | 0.2 | 1.19 [1.14–1.23 ] | 2.13E−20 |
7 | 99471072 | 128 | rs2099446 | CYP3A52P | 0.46 | 0.89 [0.86–0.91] | 6.95E−16 |
8 | 42667432 | 137 | rs62515894 | CHRNA6 | 0.06 | 1.31 [1.23–1.4] | 6.51E−17 |
9 | 93391288 | 150 | rs183428791 | DIRAS2 | 0.06 | 1.28 [1.21–1.36] | 1.79E−16 |
11 | 47197153 | 167 | rs75290815 | ARFGAP2 | 0.07 | 1.32 [1.24–1.4] | 8.66E−21 |
11 | 48346996 | 167 | rs12794960 | OR4C3 | 0.16 | 0.79 [0.76–0.83] | 3.93E−30 |
11 | 48472051 | 167 | rs61915439 | OR4C9P | 0.07 | 1.29 [1.21–1.36] | 7.62E−18 |
11 | 48709133 | 167 | rs75184591 | OR4A44P | 0.36 | 1.23 [1.19–1.27] | 2.03E−40 |
11 | 50189874 | 167 | 11:50189874_CAA_C | RP11-347H15.6 | 0.82 | 0.79 [0.76–0.82] | 8.50E−33 |
11 | 50468801 | 167 | rs1813937 | RP11-574M7.2 | 0.78 | 1.28 [1.23–1.32] | 6.15E−42 |
11 | 51253295 | 167 | rs4312050 | AC110283.1 | 0.16 | 0.82 [0.79–0.86] | 7.15E−22 |
11 | 51476467 | 167 | rs4515954 | OR4C7P | 0.17 | 1.23 [1.19–1.28] | 2.35E−26 |
11 | 54892370 | 168 | rs58904316 | TRIM48 | 0.17 | 1.24 [1.19–1.29] | 2.44E−26 |
11 | 55567256 | 168 | rs72918199 | OR5D14 | 0.06 | 0.73 [0.68–0.77] | 2.45E−23 |
12 | 34454301 | 177 | rs7314457 | RP13-7D7.1/AK6P1 | 0.54 | 1.16 [1.13–1.2] | 3.47E−24 |
12 | 38666013 | 178 | rs10880819 | Y_RNA (ALG10B) | 0.46 | 0.86 [0.83–0.88] | 5.48E−25 |
12 | 122028904 | 187 | rs28507431 | RP13-941N14.1 | 0.12 | 1.21 [1.16–1.26] | 8.09E−17 |
13 | 52496060 | 190 | rs7988558 | ATP7B | 0.04 | 1.27 [1.2–1.34] | 8.99E−19 |
13 | 52862570 | 190 | rs9535966 | TPTE2P2 | 0.05 | 1.55 [1.45–1.65] | 1.11E−36 |
15 | 63760569 | 205 | rs4984289 | AC007950.1 | 0.44 | 1.13 [1.1–1.16] | 1.79E−16 |
15 | 76772062 | 208 | rs2469249 | SCAPER | 0.27 | 0.85 [0.82–0.88] | 5.26E−23 |
16 | 70676478 | 217 | rs12598456 | IL34 | 0.35 | 1.16 [1.12–1.19] | 2.52E−21 |
16 | 70728477 | 217 | rs3785425 | VAC14 | 0.07 | 1.3 [1.22–1.37] | 4.63E−19 |
17 | 44257788 | 229 | rs2696697 | KANSL1 | 0.23 | 0.87 [0.84–0.9] | 5.08E−16 |
19 | 44522357 | 239 | rs73035978 | ZNF230 | 0.11 | 1.25 [1.19–1.31] | 3.70E−21 |
19 | 45235700 | 239 | rs74607435 | snoZ6 | 0.05 | 0.74 [0.69–0.79] | 2.23E−19 |
19 | 45938019 | 239 | rs143008566 | ERCC1 | 0.05 | 0.73 [0.68–0.78] | 1.07E−18 |
19 | 46049982 | 239 | rs10422253 | OPA3 | 0.78 | 1.21 [1.16–1.25] | 3.35E−25 |
19 | 46165082 | 239 | rs112972879 | GIPR | 0.37 | 1.16 [1.13–1.2] | 3.47E−22 |
19 | 46428653 | 239 | rs9789319 | NOVA2 | 0.5 | 1.14 [1.11–1.17] | 1.63E−18 |
22 | 41587556 | 244 | rs9607782 | EP300-AS1/RP1-85F18.5 | 0.25 | 1.16 [1.12–1.2] | 3.14E−18 |