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. 2021 Apr 16;16(4):e0249305. doi: 10.1371/journal.pone.0249305

Table 1. Seven SNPs in APOE and TOMM40 (indicated by * of the SNP IDs) and 29 novel SNPs reaching exome-wide significance (p < 3.0 x 10−7, Bonferroni-corrected cutoff of p < 0.05 / # tests): Population minor allele frequency (MAF) in cases and controls, MAF in controls processed by Illumina or NimbleGen exome capture kit, and MAF in Non-Finish European (NFE) cohort of the ExAC database (http://exac.broadinstitute.org/).

Chr Position Ref Alt p-value (Model 1) p-value (Model 2) Gene SNP ID ADSP Cases MAF ADSP Controls MAF ADSP Controls MAF, Illumina ADSP Controls MAF, NimbleGen ExAC AAF, NFE
19 45411941 T C 2.4E-185 N/A APOE rs429358* 0.2293 0.0701 0.074 0.067 0.1504
19 45396144 C T 4.7E-103 0.7097 TOMM40 rs11556505* 0.2023 0.0879 0.085 0.090 0.0875
19 45395714 T C 2.4E-75 0.1439 TOMM40 rs157581* 0.2766 0.1629 0.165 0.162 0.2326
19 45412079 C T 1.8E-48 N/A APOE rs7412* 0.042 0.0988 0.116 0.087 0.0813
15 75913319 T G 4.3E-45 2.7E-35 SNUPN rs1004285543 0.0825 0.0255 0.063 0.001 NA
17 25973604 A C 2.6E-45 1.4E-34 LGALS9 rs761436847 0.0823 0.0256 0.056 0.006 0.0906
6 36979483 T G 1.7E-39 1.6E-29 FGD2 rs769719224 0.0998 0.0404 0.072 0.019 0.0294
14 99976645 A C 4.1E-36 7.5E-28 CCNK rs745936510 0.0899 0.0348 0.068 0.013 0.0713
13 114188430 C T 4.7E-38 2.2E-27 TMCO3 rs77834374 0.1068 0.0459 0.080 0.024 0.1336
14 99976639 G C 9.4E-36 3.7E-26 CCNK rs778243462 0.0932 0.0372 0.071 0.015 0.0808
17 25973598 A C 4.3E-25 1.1E-21 LGALS9 rs760143837 0.0472 0.014 0.033 0.002 0.0243
14 77706020 A C 9.7E-28 6.3E-21 TMEM63C rs774212969 0.0577 0.019 0.036 0.008 0.009
19 45397229 G A 9.6E-21 0.3137 TOMM40 rs1160983* 0.0173 0.0416 0.045 0.039 0.0718
11 117280516 A C 7.9E-29 2.5E-20 CEP164 rs756182128 0.0748 0.0296 0.050 0.016 0.081
3 42739737 T G 5.7E-25 9.7E-20 HHATL rs763168412 0.0539 0.0182 0.034 0.008 0.0919
3 48451952 A C 3.2E-24 2.7E-19 PLXNB1 rs770786389 0.0562 0.02 0.037 0.009 0.0255
19 45397307 C T 1.5E-18 0.928 TOMM40 rs112849259* 0.0308 0.0107 0.005 0.014 0.0011
12 56622883 A C 4.3E-24 1.2E-17 NABP2 rs757798976 0.0714 0.0301 0.054 0.014 0.0476
2 85662149 A C 4.0E-21 4.3E-16 SH2D6 rs748669078 0.068 0.0309 0.044 0.022 0.0026
19 10946797 G C 6.4E-21 2.5E-15 TMED1 rs767166604 0.0421 0.0128 0.029 0.002 0.0007
14 105932775 G C 5.5E-21 3.1E-15 MTA1 rs782227993 0.0627 0.0259 0.047 0.012 0.0208
6 29429950 A C 1.1E-19 3.6E-15 OR2H1 rs746691570 0.0402 0.0132 0.022 0.007 0.0207
11 117280522 A C 6.5E-21 3.3E-14 CEP164 rs758240656 0.0529 0.0198 0.037 0.009 0.0768
2 85662154 A C 4.9E-18 4.0E-14 SH2D6 rs760146451 0.0617 0.0288 0.040 0.021 0.0018
13 88330245 A C 3.1E-17 1.1E-13 SLITRK5 rs773717935 0.0277 0.0065 0.014 0.002 3.1E-05
19 45409167 C G 9.7E-13 0.3854 APOE rs440446* 0.3332 0.3817 0.361 0.395 0.4346
19 10946802 T C 1.2E-16 3.1E-12 TMED1 rs776909029 0.0366 0.0117 0.028 0.001 0.0009
9 34564740 A C 6.5E-16 3.6E-12 CNTFR rs774039930 0.0516 0.0222 0.039 0.011 0.0008
3 108474687 T G 1.4E-15 5.8E-12 RETNLB rs199707443 0.0328 0.0107 0.025 0.001 0.0493
19 43025485 T G 2.6E-15 7.7E-12 CEACAM1 rs763190977 0.0921 0.0523 0.107 0.016 0.0026
3 31659462 A T 4.8E-17 9.2E-12 STT3B rs74346226 0.0891 0.0514 0.076 0.035 0.131
12 109719316 T G 9.1E-12 2.1E-10 FOXN4 rs760573591 0.0309 0.0115 0.025 0.003 1.5E-05
8 145112936 T C 6.8E-14 5.0E-10 OPLAH rs781948612 0.0331 0.0114 0.026 0.002 0.0364
19 42799299 T C 5.7E-12 1.4E-09 CIC rs745695673 0.019 0.0043 0.011 0.000 0
13 111164389 A C 7.2E-12 1.6E-08 COL4A2 rs199702442 0.0517 0.0274 0.041 0.018 0.0285
22 30951295 T G 2.0E-11 1.8E-08 GAL3ST1 rs762634521 0.0204 0.0056 0.013 0.001 0.028

Model 1 adjusted for sequencing center and the first four PCs underlying population substructure. Model 2 adjusted for sequencing center, the first 4 PCs, sex and APOE genotype.