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. 2018 Sep 17;9(5):383–404. doi: 10.3892/br.2018.1152

Table II.

170 SNPs significantly (FDR <0.5) associated with coronary artery disease in the exome-wide association study.

Gene SNP Nucleotide substitutiona Amino acid substitution Chromosome Position MAF, % Allele OR P-value, allele frequency FDR, allele frequency
PLCB2 rs200787930 C/T E1106K 15 40289298 1.2 0.03 1.24×10−29 1.56×10−26
MARCH1 rs61734696 G/T Q137K 4 164197303 1.2 0.03 2.09×10−29 2.54×10−26
VPS33B rs199921354 C/T R80Q 15 91013841 1.2 0.03 2.76×10−29 3.30×10−26
CXCL8 rs188378669 G/T E31* 4 73741568 1.2 0.03 3.15×10−29 3.70×10−26
TMOD4 rs115287176 G/A R277W 1 151170961 1.2 0.03 1.21×10−28 1.39×10−25
COL6A3 rs146092501 C/T E1386K 2 237371861 1.2 0.04 2.93×10−28 3.27×10−25
ZNF77 rs146879198 G/A R340* 19 2934109 1.2 0.04 2.92×10−28 3.27×10−25
ADGRL3 rs192210727 G/T R580I 4 61909615 1.3 0.10 2.92×10−23 3.06×10−20
OR52E4 rs11823828 T/G F227L 11 5884973 36.6 1.54 3.40×10−21 3.35×10−18
ALDH2 rs671 G/A E504K 12 111803962 27.6 1.41 4.12×10−15 3.78×10−12
ACAD10 rs11066015 G/A 12 111730205 27.5 1.41 4.92×10−15 4.45×10−12
BRAP rs3782886 A/G 12 111672685 29.3 1.37 4.38×10−13 3.71×10−10
HECTD4 rs11066280 T/A 12 112379979 29.0 1.37 6.94×10−13 5.73×10−10
HECTD4 rs2074356 C/T 12 112207597 25.4 1.36 1.21×10−11 9.78×10−9
NAA25 rs12231744 C/T R876K 12 112039251 35.1 0.77 1.68×10−9 1.24×10−6
GOSR2 rs1052586 T/C 17 46941097 48.7 0.79 3.94×10−8 2.61×10−5
ATXN2 rs7969300 T/C N248S 12 111555908 38.8 0.79 4.41×10−8 2.87×10−5
LILRB2 rs73055442 C/T R103H 19 54279838 1.6 44.10 2.00×10−7 1.20×10−4
rs12229654 T/G 12 110976657 22.5 1.28 2.09×10−7 1.24×10−4
LOC107987429 rs2844533 T/C 6 31383025 15.3 1.32 3.49×10−7 1.95×10−4
MTFR2 rs143974258 G/A R360* 6 136231355 3.3 0.05 6.66×10−7 3.60×10−4
PSORS1C1 rs3130559 C/T 6 31129524 44.2 0.82 1.51×10−6 7.74×10−4
rs2596548 G/T 6 31362769 5.4 1.51 1.83×10−6 9.21×10−4
EIF3L rs9466 T/C 22 37877742 21.6 1.28 1.96×10−6 9.77×10−4
LPGAT1 rs150552771 T/C K200E 1 211783358 5.0 7.14 2.26×10−6 0.0011
LAIR2 rs34429135 T/A F115Y 19 54508164 2.5 ND 2.70×10−6 0.0013
rs2523644 A/G 6 31374707 8.1 1.40 2.75×10−6 0.0013
rs10757278 A/G 9 22124478 49.5 0.83 2.92×10−6 0.0014
CCHCR1 rs130067 T/G E328D 6 31150734 33.2 0.81 3.10×10−6 0.0015
TCHP rs74416240 G/A 12 109904793 13.3 1.30 3.25×10−6 0.0015
rs1333049 G/C 9 22125504 49.4 1.20 3.95×10−6 0.0018
CDKN2B-AS1 rs4977574 A/G 9 22098575 47.1 1.21 4.18×10−6 0.0019
CDKN2B-AS1 rs2383207 G/A 9 22115960 33.7 0.81 4.86×10−6 0.0022
SLC16A1 rs1049434 T/A D490E 1 112913924 34.7 0.82 5.76×10−6 0.0025
GIT2 rs925368 T/C N389S 12 109953174 12.5 1.30 6.02×10−6 0.0026
rs1333048 A/C 9 22125348 49.6 1.20 6.46×10−6 0.0028
rs2523578 T/C 6 31360765 8.1 1.39 6.54×10−6 0.0028
rs404890 G/T 6 32231090 30.5 1.22 8.90×10−6 0.0037
APOE rs7412 C/T R176C 19 44908822 4.3 0.60 1.06×10−5 0.0043
CCHCR1 rs130071 G/A 6 31148433 5.1 1.52 1.06×10−5 0.0043
rs602633 C/A 1 109278889 7.6 0.69 1.15×10−5 0.0046
CELSR2 rs12740374 G/T 1 109274968 7.7 0.69 1.15×10−5 0.0046
MKI67 rs145121731 G/A S2722L 10 128102595 1.5 2.04 1.20×10−5 0.0047
CUBN rs78201384 C/T E304K 10 17111024 2.7 0.52 1.38×10−5 0.0054
PSORS1C3 rs887466 T/C 6 31175734 41.1 1.20 1.38×10−5 0.0054
PSORS1C1 rs3094663 G/A 6 31139310 30.9 1.20 1.40×10−5 0.0054
rs10853110 A/G 17 49241052 39.2 1.20 1.49×10−5 0.0057
WDR37 rs10794720 C/T 10 1110225 8.5 0.71 1.52×10−5 0.0057
CELSR2 rs629301 A/C 1 109275684 7.8 0.70 1.52×10−5 0.0057
SKIV2L rs592229 G/T 6 31962664 42.4 1.20 1.57×10−5 0.0058
rs12182351 T/C 6 32233930 29.8 1.22 1.59×10−5 0.0059
POU5F1 rs3130503 G/A 6 31169388 29.5 1.20 1.64×10−5 0.0060
PSORS1C3 rs1265155 T/C 6 31175917 41.1 1.19 1.68×10−5 0.0061
CELSR2 rs646776 A/G 1 109275908   7.7 0.70 1.70×10−5 0.0062
rs2596503 C/T 6 31353033 19.3 1.24 1.75×10−5 0.0063
TRPM1 rs2241493 T/C N54S 15 31070149 12.6 0.76 1.81×10−5 0.0065
CCDC141 rs13419085 T/C N1170S 2 178837710   1.8 0.46 1.92×10−5 0.0068
VARS2 rs9394021 A/G Q777R 6 30925350 44.9 0.84 1.98×10−5 0.0069
SFTA2 rs2286655 T/C 6 30931969 44.9 1.19 1.99×10−5 0.0069
rs3873334 T/C 6 30928370 44.9 1.19 1.98×10−5 0.0069
rs9261800 C/G 6 30408822   2.8 7.21 2.02×10−5 0.0069
TCF19 rs3130453 C/T 6 31157072 34.4 0.83 2.10×10−5 0.0072
C21orf59 rs76974938 C/T D67N 21 32609946   2.4 0.00 2.14×10−5 0.0073
DDR1 rs2239518 T/C 6 30897948 44.9 1.19 2.19×10−5 0.0074
CDSN rs3130984 C/T S143N 6 31117187 13.4 1.29 2.20×10−5 0.0074
rs197932 T/C 17 46896981 26.9 0.82 2.23×10−5 0.0075
CDSN rs3130981 C/T D527N 6 31116036 13.6 1.29 2.30×10−5 0.0075
MICB-DT rs3132469 C/T 6 31488790   5.3 1.46 2.41×10−5 0.0078
HLA-DQB1 rs1049056 C/A A6S 6 32666592 11.9 1.30 2.51×10−5 0.0081
DDR1 rs2239517 A/G 6 30897338 44.6 1.19 2.59×10−5 0.0083
CCHCR1 rs1265110 G/A 6 31151645 30.2 0.83 2.69×10−5 0.0085
CCDC63 rs10774610 T/C 12 110902439 23.7 1.22 2.76×10−5 0.0087
GTF2H4 rs2284176 C/T 6 30907845 44.6 1.19 2.80×10−5 0.0088
GTF2H4 rs3909130 G/A 6 30906388 44.6 1.19 2.84×10−5 0.0089
GTF2H4 rs916920 G/A 6 30909425 44.7 1.19 2.85×10−5 0.0089
rs1264569 A/G 6 30397543   4.6 1.49 2.98×10−5 0.0092
CACNA1D rs35874056 G/A G460S 3 53702798   2.0 25.00 3.09×10−5 0.0094
rs9468845 A/G 6 30901816 44.7 1.19 3.12×10−5 0.0094
DDR1 rs8408 C/T 6 30899889 44.7 1.19 3.11×10−5 0.0094
DDR1 rs7756521 C/T 6 30880476 44.7 1.19 3.10×10−5 0.0094
CDKN2B-AS1 rs1011970 G/T 9 22062135   5.6 1.41 3.15×10−5 0.0095
ADAT1 rs145161932 T/C R57G 16 75612670   1.4 0.39 3.29×10−5 0.0098
POU5F1 rs885950 T/G 6 31172375 34.0 0.83 3.28×10−5 0.0098
DDR1 rs4618569 A/G 6 30887474 44.7 1.19 3.41×10−5 0.0101
KRT13 rs146918776 A/G Y281H 17 41502993   1.5 1.94 3.51×10−5 0.0103
rs2523638 G/A 6 31376496 43.1 1.19 3.53×10−5 0.0103
PSRC1 rs599839 A/G 1 109279544   7.9 0.71 3.52×10−5 0.0103
rs9275141 G/T 6 32683340 26.4 1.21 3.62×10−5 0.0105
CCDC63 rs10849915 T/C 12 110895818 23.6 1.22 3.63×10−5 0.0105
HLA-DRA rs3177928 G/A 6 32444658   5.9 1.41 3.81×10−5 0.0108
OAS3 rs2072134 C/T 12 112971371 17.6 1.24 4.06×10−5 0.0114
USP45 rs41288947 C/G T521R 6 99446210 14.9 1.26 4.11×10−5 0.0115
CCHCR1 rs1265109 A/C 6 31151812 48.2 1.18 4.16×10−5 0.0116
LOC101929163 rs6930777 C/T 6 32383789   5.5 1.43 4.45×10−5 0.0122
rs7333181 G/A 13 111568950   2.5 0.54 4.45×10−5 0.0122
DDR1 rs1264323 T/C 6 30888130 38.8 1.19 4.48×10−5 0.0122
LINC00243 rs3094111 G/A 6 30820414 14.7 1.25 4.52×10−5 0.0123
rs10484561 T/G 6 32697643   5.9 1.41 4.55×10−5 0.0123
PSORS1C1 rs3130558 G/C 6 31129406 13.7 1.27 4.59×10−5 0.0124
HLA-DQB1 rs1049060 T/A S27T 6 32666529 28.8 1.20 4.92×10−5 0.0131
rs2844650 G/A 6 30934756   4.7 1.47 4.99×10−5 0.0131
DDR1 rs3132572 T/C 6 30893952   4.7 1.47 4.99×10−5 0.0131
CCHCR1 rs1265115 T/G 6 31149298 47.7 1.18 4.96×10−5 0.0131
CCHCR1 rs3094225 T/C 6 31145275 48.4 1.18 4.93×10−5 0.0131
LOC107987453 rs3129987 C/T 6 30798427 14.5 1.25 5.05×10−5 0.0132
DPCR1 rs2517451 A/G 6 30946974   4.7 1.47 5.11×10−5 0.0133
KIAA1551 rs10771894 A/G S352G 12 31982009 32.4 1.19 5.18×10−5 0.0134
rs13427905 C/T 2 71846585 18.5 0.80 5.22×10−5 0.0134
ABCA1 rs1883025 G/A 9 104902020 28.8 0.83 5.46×10−5 0.0139
SFTA2 rs2253705 G/A 6 30932317 18.0 1.23 5.60×10−5 0.0141
PLUT rs954750 G/A 13 27889801 48.3 1.18 5.86×10−5 0.0146
TCF19 rs1419881 T/C 6 31162816 48.1 1.18 6.37×10−5 0.0156
rs13209234 G/A 6 32448198   5.9 1.41 6.47×10−5 0.0158
PSORS1C1 rs1265100 T/C 6 31137533 32.2 0.83 6.55×10−5 0.0159
YEATS2 rs76174573 G/T C1232F 3 183804099   3.7 0.61 6.74×10−5 0.0162
ABO rs1053878 C/T P156L 9 133256264 22.8 1.20 6.78×10−5 0.0162
rs4014195 C/G 11 65739351 16.6 1.24 6.78×10−5 0.0162
SFTA2 s2253588 C/G 6 30931600 23.6 1.21 6.93×10−5 0.0165
CYP4F8 rs201166643 C/A R488S 19 15629257   1.1 ND 7.00×10−5 0.0165
NAXE rs7516274 C/G L19V 1 156591859   1.8 0.48 7.18×10−5 0.0169
rs10757283 T/C 9 22134173 33.8 0.84 7.25×10−5 0.0170
BTNL2 rs28362680 G/A A202V 6 32403039 39.7 0.85 7.40×10−5 0.0171
BTNL2 rs10947262 C/T 6 32405535 39.7 0.85 7.40×10−5 0.0171
KRT27 rs17558532 C/T A284T 17 40779624   3.6 0.62 7.71×10−5 0.0176
GTF2H4 rs3130780 G/T 6 30906531 18.0 1.23 7.71×10−5 0.0176
rs2532934 T/C 6 30926982 24.1 1.20 7.74×10−5 0.0176
VARS2 rs753725 G/A 6 30923094 24.1 1.20 7.68×10−5 0.0176
PLUT rs11619319 A/G 13 27913462 48.1 1.18 7.64×10−5 0.0176
rs3095273 C/T 6 29598592   5.5 1.41 8.16×10−5 0.0184
TNS1 rs918949 C/T V1590I 2 217809974 42.8 0.85 8.39×10−5 0.0188
LINC00243 rs3130785 C/T 6 30828961 14.6 1.24 8.37×10−5 0.0188
VARS2 rs2249464 C/T R309W 6 30920384 24.1 1.20 9.39×10−5 0.0207
rs3095345 A/G 6 30854636 17.9 1.22 9.37×10−5 0.0207
ITGB8 rs80015015 G/A C481Y 7 20401881   7.1 1.35 1.01×10−4 0.0220
VARS2 rs885905 C/T 6 30922654 23.4 1.20 1.07×10−4 0.0232
LIPE rs34052647 G/A R611C 19 42407617   5.5 1.39 1.16×10−4 0.0249
PHACTR1 rs9369640 A/C 6 12901209   9.1 0.74 1.30×10−4 0.0275
BTNL2 rs41417449 T/C M295V 6 32396234 23.0 0.83 1.35×10−4 0.0280
BTNL2 rs41441651 C/T D336N 6 32396111 23.0 0.83 1.35×10−4 0.0280
BTNL2 rs28362675 C/A E454* 6 32394744 23.0 0.83 1.35×10−4 0.0280
BTNL2 rs78587369 G/A T165I 6 32403150 23.0 0.83 1.35×10−4 0.0280
BTNL2 rs3763315 G/T 6 32408877 23.0 0.83 1.35×10−4 0.0280
BTNL2 rs2076528 T/G 6 32396417 23.0 0.83 1.35×10−4 0.0280
PRKG1 rs9414827 G/A 10 51137314 10.1 0.76 1.37×10−4 0.0282
rs6537384 T/G 4 145949613 28.8 1.19 1.43×10−4 0.0294
rs6067640 G/A 20 51092837 38.5 0.85 1.48×10−4 0.0302
rs10514995 A/G 5 66443611 48.7 1.16 1.51×10−4 0.0306
BTNL2 rs34423804 T/A V283D 6 32396269 23.0 0.83 1.63×10−4 0.0329
PHACTR1 rs9349379 G/A 6 12903725 34.2 0.85 1.69×10−4 0.0341
STIM1 rs116855870 A/G 11 4055527   1.1 1.93 1.71×10−4 0.0343
ZNF142 rs3821033 C/T A1313T 2 218642579 11.2 1.26 1.78×10−4 0.0355
LINC00354 rs4907518 G/A 13 111898209 45.6 0.85 1.82×10−4 0.0362
TNS3 rs11763932 G/A 7 47567880 42.0 0.85 1.91×10−4 0.0378
BTRC rs2270439 C/A P566H 10 101550817   3.5 0.63 1.94×10−4 0.0381
MIA3 rs2936051 A/G E881G 1 222629862 40.1 0.85 1.96×10−4 0.0384
rs6825911 C/T 4 110460482 45.9 0.86 2.01×10−4 0.0391
VNN1 rs2294757 G/A T26I 6 132713959 37.4 0.85 2.02×10−4 0.0393
ZNF860 rs140232911 C/T S161L 3 31989561 10.4 0.44 2.09×10−4 0.0406
rs838880 C/T 12 124777047 47.5 1.16 2.23×10−4 0.0430
MIA3 rs2936052 A/G K605R 1 222629034 34.4 0.85 2.26×10−4 0.0430
DTNBP1 rs2743868 G/A 6 15625577 31.6 1.18 2.26×10−4 0.0430
MON2 rs11174549 A/G I1385V 12 62565357   5.0 1.40 2.26×10−4 0.0430
rs507666 G/A 9 136149399 27.8 1.18 2.26×10−4 0.0430
FAM170B rs73302786 G/T D252E 10 49131709   3.5 1.47 2.36×10−4 0.0445
PSORS1C3 rs3131018 G/T 6 31175805 15.7 1.23 2.36×10−4 0.0445
PIEZO2 rs35033671 C/A C1148F 18 10759842 11.0 1.27 2.39×10−4 0.0448
SLC22A3 rs1810126 C/T 6 160451119 49.1 0.86 2.46×10−4 0.0460
PANK1 rs11185790 G/A 10 89612776 46.9 1.16 2.57×10−4 0.0481
GFY rs73053944 C/G T203S 19 49427038   2.9 1.51 2.58×10−4 0.0481
RNF2 rs1046592 A/G 1 185100429 33.9 0.85 2.63×10−4 0.0488

Allele frequencies were analyzed using Fisher's exact test.

a

Major allele/minor allele. SNP, single nucleotide polymorphisms; MAF, minor allele frequency; OR, odds ratio; FDR, false discovery rate; ND, not determined.