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. 2013 May 14;3(5):e256. doi: 10.1038/tp.2013.13

Table 2. SNPs in SORL1, SORCS1 SORCS2 and SORCS3 associated with AD: (a) SNPs in SORL1, (b) SNPs in SORCS1, (c) SNPs in SORCS2, (d) SNPs in SORCS3.

(a)
SNP CHR BP Allele 1 Allele 2 Freq1 β s.e. Pa NUMOBS Locationb Splice site distance
rs7946599 11 121 423 640 a g 0.0155 −0.4545 0.1027 9.66E-06 20131 Intron 16 1006
rs2298814 11 121 424 882 a g 0.0157 −0.4234 0.0916 3.76E-06 23821 Intron 17 64
rs6589885 11 121 426 042 a g 0.0162 −0.4004 0.0851 2.57E-06 23821 Intron 18 15
rs7131432 11 121 426 870 a t 0.0165 −0.3804 0.0811 2.75E-06 23821 Intron 18 843
rs720099 11 121 433 793 t c 0.9829 0.3607 0.0766 2.51E-06 23821 Intron 21 3427
rs11218342 11 121 434 428 t c 0.9829 0.3575 0.0761 2.60E-06 23821 Intron 21 3221
rs11218343 11 121 435 587 t c 0.9828 0.3539 0.0755 2.72E-06 23821 Intron 21 2062
rs1784919 11 121 439 665 t c 0.0172 −0.3586 0.0752 1.88E-06 23821 Intron 22 1201
rs1792124 11 121 441 520 a g 0.0172 −0.359 0.0752 1.83E-06 23821 Intron 23 541
rs3781835 11 121 448 254 a g 0.0173 −0.3501 0.0751 3.14E-06 23821 Intron 23 145
rs3781838 11 121 453 517 t g 0.9825 0.3506 0.0754 3.29E-06 23821 Intron 25 650
rs12272618 11 121 460 324 t c 0.9821 0.3536 0.0754 2.74E-06 23821 Intron 29 225
rs2276412 11 121 460 846 t c 0.018 −0.3531 0.0752 2.64E-06 23821 CDS-synon (exon 30)  
rs7939826 11 121 468 256 t c 0.0198 −0.3463 0.0738 2.69E-06 23821 Intron 32 1775
rs1784933 11 121 489 416 a g 0.9532 0.216 0.0606 0.000363 21455 Intron 41 67
(b)
SNP CHR BP Allele 1 Allele 2 Freq1 β s.e. Pc NUMOBS Locationd Splice site distance
rs12258738 10 108 557 945 t g 0.9754 −0.1415 0.0665 0.03328 23821 Intron 3 21 495
rs12248379 10 108 562 008 t g 0.1844 0.0761 0.0257 0.003058 23821 Intron 3 25 558
rs17121613 10 108 563 116 t g 0.8766 −0.0773 0.0304 0.01106 23821 Intron 3 26 216
rs4917491 10 108 650 174 t c 0.5952 −0.0405 0.0202 0.04463 23821 Intron 2 60 743
rs7076579 10 108 653 167 t c 0.5951 −0.04 0.0202 0.04719 23821 Intron 2 63 104
rs7096260 10 108 653 483 a g 0.5949 −0.0396 0.0201 0.04944 23821 Intron 2 62 788
rs12356136 10 108 657 180 t c 0.4006 0.0403 0.0203 0.04731 23821 Intron 2 59 091
rs7895881 10 108 658 597 a t 0.4002 0.0406 0.0204 0.04674 23821 Intron 2 57 674
rs1004921 10 108 659 048 a g 0.4 0.041 0.0204 0.04501 23821 Intron 2 57 223
rs10884389 10 108 695 777 t c 0.4129 −0.0388 0.0197 0.04886 23821 Intron 2 20 494
rs10786997 10 108 704 547 a g 0.5873 0.0401 0.0196 0.04094 23821 Intron 2 11 724
rs11193127 10 108 706 022 a g 0.4125 −0.0399 0.0196 0.04169 23821 Intron 2 10 249
rs11193128 10 108 706 198 t c 0.5876 0.0397 0.0196 0.04273 23821 Intron 2 10 073
rs10884390 10 108 709 366 a g 0.5877 0.0399 0.0196 0.04167 23821 Intron2 6905
rs10884391 10 108 709 892 a c 0.4124 −0.0406 0.0196 0.03801 23821 Intron 2 6379
rs10786998 10 108 710 127 a c 0.4124 −0.0408 0.0196 0.03737 23821 Intron 2 6144
rs12245675 10 108 712 233 t c 0.4116 −0.0413 0.0196 0.03543 23821 Intron 2 4038
rs17276802 10 108 712 398 t c 0.4117 −0.0414 0.0196 0.03474 23821 Intron 2 3873
rs2149197 10 108 716 784 c g 0.5884 0.0435 0.0196 0.0268 23821 Intron 1 446
rs11193130 10 108 718 454 t c 0.5875 0.0435 0.0196 0.02677 23821 Intron 1 2116
rs4918282 10 108 862 741 a g 0.4074 0.0651 0.0263 0.0134 20952 Intron 1 60 986
rs10787010 10 108 862 960 a g 0.6392 −0.061 0.0303 0.04421 17630 Intron 1 60 767
rs11193209 10 108 890 136 t c 0.9776 −0.1544 0.0746 0.03843 23821 Intron 1 33 591
(c)
SNP CHR BP Allele 1 Allele 2 Freq1 β s.e. Pc NUMOBS Locationd Splice site distance
rs11722747 4 7 314 043 a g 0.1431 0.0554 0.0281 0.04836 23821 Intron 1 83 972
rs4689707 4 7 326 199 t c 0.1329 0.0663 0.0328 0.0434 19918 Intron 1 71 816
rs3864203 4 7 328 416 a g 0.6996 −0.0554 0.0265 0.03639 19918 Intron 1 69 599
rs7665496 4 7 328 734 t c 0.9063 −0.1045 0.0415 0.01184 19918 Intron 1 69 281
rs7661158 4 7 329 065 a g 0.6996 −0.0497 0.0239 0.03715 19918 Intron 1 68 950
rs6840423 4 7 329 324 t g 0.121 0.0849 0.0356 0.01723 19918 Intron 1 68 691
rs3864202 4 7 329 426 a g 0.7018 −0.049 0.0233 0.03506 19918 Intron 1 68 589
rs16840053 4 7 330 676 a g 0.1462 0.0778 0.0315 0.0136 19918 Intron 1 67 339
rs13110208 4 7 353 052 t c 0.5296 −0.0626 0.0241 0.009441 17630 Intron 1 44 963
rs4689720 4 7 390 442 t c 0.1019 −0.1178 0.0531 0.02643 16732 Intron 1 7573
rs7684383 4 7 417 241 t c 0.0403 −0.1429 0.069 0.03841 19633 Intron 2 19 159
rs4234804 4 7 417 632 a g 0.0396 −0.1509 0.0674 0.02505 20990 Intron 2 19 550
rs6837589 4 7 419 276 t c 0.1688 −0.0589 0.0277 0.03358 22439 Intron 2 21 194
rs13105690 4 7 420 184 t c 0.2742 −0.0599 0.0248 0.01552 19918 Intron 2 22 102
rs4292336 4 7 420 785 a g 0.8316 0.0546 0.0277 0.04904 22439 Intron 2 22 703
rs17465564 4 7 622 347 a g 0.9136 0.0861 0.04 0.03151 22439 Intron 3 17 708
rs2214459 4 7 667 486 t c 0.6948 −0.0519 0.0234 0.02645 21275 Intron 7 1288
rs12233824 4 7 733 843 a g 0.45 −0.04 0.0203 0.04877 23821 Intron 23 1206
(d)
SNP CHR BP Allele 1 Allele 2 Freq1 β s.e. Pe NUMOBS Locationd Splice site distance
rs12249460 10 106 605 440 a g 0.0361 0.136 0.0585 0.01999 23821 Intron 2 2823
rs6584629 10 106 608 435 a g 0.0475 0.1038 0.0457 0.02303 23821 Intron 2 5818
rs12259189 10 106 615 387 t c 0.0474 0.0972 0.0458 0.03358 23821 Intron 2 12 770
rs3976793 10 106 616 736 a g 0.0474 0.0969 0.0458 0.03433 23821 Intron 2 14 119
rs12262245 10 106 621 704 c g 0.9529 −0.0941 0.046 0.04088 23821 Intron 2 19 087
rs7086583 10 106 622 009 a c 0.9529 −0.0929 0.046 0.04342 23821 Intron 2 19 392
rs1670036 10 106 807 189 a c 0.978 0.2082 0.0867 0.0164 23821 Intron 5 4 303
rs749304 10 106 990 399 a g 0.7655 −0.0469 0.0227 0.0391 23821 Intron 20 7392
rs12263804 10 106 993 770 t c 0.2348 0.0474 0.0227 0.03711 23821 Intron 20 10 763
rs7920533 10 107 013 252 a g 0.3247 0.0546 0.0221 0.01354 23821 Intron 23 588
rs3750261 10 107 023 390 t c 0.2396 0.045 0.0226 0.04653 23821 UTR-3  
rs10884126 10 107 025 028 a g 0.2397 0.0451 0.0226 0.04627 23821 NearGene-3  

Abbreviations: BP, base pair position; β, beta coefficient; CDS, coding sequence; CHR, chromosome; location, single nucleotide polymorphism (SNP) location; NUMOBS, number of subjects; s.e., standard error of beta coefficient; SORCS1, sortilin-related VPS10 domain-containing receptor 1; SORL1, sortilin-related receptor 1; UTR, untranslated rgion.

a

Based on the number of tests performed, a P-value of 0.0009 can be considered statistically significant.

b

Exons 1–16 encode the VPS10 domain.

c

Based on the number of tests performed, a P-value of 0.0002 can be considered statistically significant.

d

Exons 1–18 encode the VPS10 domain.

e

Based on the number of tests performed, a P-value of 0.0006 can be considered statistically significant.