Table 1.
SORL1 SNP information in the original study and in the TGEN dataset.
SNP order | dbSNP rs Number | Physical Map Location (bp) | Distance (bp) from Previous Marker | SNP Type | Orig order | TGEN order | NE FAD | Israeli Arab | TGEN |
---|---|---|---|---|---|---|---|---|---|
1 | rs4935774 | 120,826,964 | Upstream of 5′ UTR | 1 | T.1 | 0.20 | 0.18 | 0.39 | |
2 | rs578506 | 120,828,687 | 1,723 | intron | 2 | 0.07 | ND | ||
3 | rs582446 | 120,833,069 | 4,382 | intron | 3 | 0.32 | 0.08 | ||
4 | rs661057 | 120,834,164 | 1,095 | intron | 4 | 0.12 | 0.07 | ||
5 | rs676160 | 120,845,443 | 11,279 | intron | T.2 | 0.49 | |||
6 | rs11218304 | 120,854,321 | 8,878 | intron | 5 | 0.27 | 0.046 | ||
7 | rs676759 | 120,864,475 | 10,154 | intron | T.3 | 0.57 | |||
8 | rs560573 | 120,866,094 | 1,619 | intron | 6 | T.4 | 0.64 | 0.29 | 0.55 |
9 | rs985421 | 120,867,526 | 1,432 | intron | T.5 | 0.28 | |||
10 | rs593769 | 120,869,213 | 1,687 | intron | T.6 | 0.57 | |||
11 | rs12364988 | 120,872,836 | 3,623 | H269H | 7 | T.7 | 0.15 | 0.041 | 0.33 |
12 | rs668387 | 120,873,131 | 295 | intron | 8 | T.8 | 0.52 | 0.021 | 0.32 |
13 | rs689021 | 120,876,330 | 3,199 | intron | 9 | 0.71 | 0.040 | ||
14 | rs641120 | 120,886,175 | 9,845 | intron | 10 | 0.57 | 0.07 | ||
15 | rs11218313 | 120,888,081 | 1,906 | intron | T.9 | 0.83 | |||
16 | rs4935775 | 120,894,712 | 6,631 | intron | 11 | 0.22 | 0.030 | ||
17 | rs12285364 | 120,898,436 | 3,724 | intron | 12 | 0.014 | 0.56 | ||
18 | rs2298813 | 120,898,894 | 458 | T528A | 13 | 0.012 | 0.43 | ||
19 | rs11600231 | 120,911,918 | 13,024 | intron | 14 | 0.69 | 0.12 | ||
20 | rs2276346 | 120,919,686 | 7,768 | intron | 15 | T.10 | 0.61 | 0.36 | 0.25 |
21 | rs10502262 | 120,920,522 | 836 | intron | T.11 | 0.17 | |||
22 | SORL1-T833T | 120,931,165 | 10,643 | T833T | 16 | 0.41 | 0.0026 | ||
23 | rs556349 | 120,931,417 | 252 | intron | 17 | 0.0057 | 0.20 | ||
24 | rs7131432 | 120,932,080 | 663 | intron | T.12 | 0.14 | |||
25 | rs11218340 | 120,936,564 | 4,484 | intron | 18 | 0.08 | 0.14 | ||
26 | rs10892756 | 120,939,766 | 3,202 | intron | T.13 | 0.49 | |||
27 | rs11218346 | 120,944,391 | 4,625 | intron | T.14 | 0.48 | |||
28 | rs1790213 | 120,947,399 | 3,008 | intron | T.15 | 0.33 | |||
29 | rs11218347 | 120,951,758 | 4,359 | intron | T.16 | 0.78 | |||
30 | rs2070045 | 120,953,300 | 1,542 | S1187S | 19 | 0.031 | 0.00082 | ||
31 | rs3824966 | 120,953,393 | 93 | intron | 20 | 0.15 | 0.15 | ||
32 | rs1699103 | 120,957,136 | 3,743 | intron | T.17 | 0.045 | |||
33 | rs7116734 | 120,957,150 | 14 | intron | T.18 | 0.30 | |||
34 | rs11218350 | 120,957,861 | 711 | intron | T.19 | 0.040 | |||
35 | SORL1-18ex26 | 120,959,359 | 1,498 | (−18) 5′ of exon 26 | 21 | 0.41 | 0.0091 | ||
36 | rs1699102 | 120,962,172 | 2,813 | N1246N | 22 | 0.06 | 0.91 | ||
37 | rs10892759 | 120,969,298 | 7,126 | intron | T.20 | 0.021 | |||
38 | rs1792113 | 120,970,156 | 858 | intron | T.21 | 0.20 | |||
39 | rs11218360 | 120,978,601 | 8,445 | intron | T.22 | 0.42 | |||
40 | rs7128608 | 120,978,808 | 207 | intron | T.23 | 0.44 | |||
41 | rs3824968 | 120,981,132 | 2,324 | A1584A | 23 | 0.0031 | 0.00073 | ||
42 | rs1629493 | 120,982,306 | 1,174 | intron | T.24 | 0.09 | |||
43 | rs2282649 | 120,984,168 | 1,862 | intron | 24 | T.25 | 0.020 | 0.64 | 0.26 |
44 | rs726601 | 120,986,617 | 2,449 | intron | T.26 | 0.07 | |||
45 | rs1784931 | 120,988,148 | 1,531 | intron | T.27 | 0.049 | |||
46 | rs1010159 | 120,988,611 | 463 | intron | 25 | T.28 | 0.09 | 0.91 | 0.14 |
47 | rs1784933 | 120,994,626 | 6,015 | intron | 26 | 0.07 | 0.80 | ||
48 | rs1614735 | 120,998,211 | 3,585 | intron | 27 | T.29 | 0.010 | 0.96 | 0.19 |
49 | rs17125558 | 120,999,237 | 1,026 | intron | T.30 | 0.70 | |||
50 | rs10892761 | 121,003,094 | 3,857 | intron | T.31 | 0.56 | |||
51 | rs1133174 | 121,006,965 | 3,871 | downstream of 3′UTR | 28 | 0.07 | 0.09 | ||
52 | rs1131497 | 121,007,955 | 990 | downstream of 3′UTR | 29 | 0.20 | 0.06 |
Notes: The nominal P values for allelic association with AD are shown for each dataset. NE FAD -- north European familial AD dataset; Israeli-Arab -- Israeli-Arab case-control dataset, and TGEN – TGEN dataset. Boldface rs number indicates that the SNP was genotyped in both Rogaeva et al. [1] and Reiman et al. [4] studies. Bold face p-value indicates that the SNP is nominally associated with AD in the original study. Bold face p-value with white font, black background refer to significant results from analyses of the TGEN data.