TABLE 2

Association results reaching genome-wide significance in the discovery study

SNVChr.Position (hg19)Effect alleleMAF#OR (95% CI)p-valueNearby geneFunction/location
rs37163062411p15.51 213 302C0.0011942 (245.6–15 360)7.18×10−13MUC5ACSynonymous
rs3447423311p15.51 219 152A0.0444.08 (2.56–6.49)2.99×10−9MUC5ACMissense (Ala5353Lys)
rs3481585311p15.51 219 153A0.0444.01 (2.52–6.38)4.15×10−9MUC5ACMissense (Ala5353Lys)
rs1280293111p15.51 236 164G0.1833.76 (2.73–5.16)3.72×10−16MUC5B8.1 kb 5′ of MUC5B
rs3570595011p15.51 241 221T0.1086.18 (4.28–8.93)2.69×10−22MUC5B3.1 kb 5′ of MUC5B
rs20024327311p15.51 266 716C0.2270.27 (0.17–0.43)3.55×10−8MUC5B/
RP11-532E4.2
Missense/intronic
rs496307311p15.51 362 949G0.3003.23 (2.12–4.921)4.91×10−8CTD-2245O6.131 kb 3′ of CTD-2245O6.1
rs496307211p15.51 362 953G0.3003.34 (2.19–5.11)2.63×10−8CTD-2245O6.131 kb 3′ of CTD-2245O6.1
rs7146989211p15.51 416 119G0.4910.22 (0.15–0.31)2.15×10−16BRSK2Intronic
rs14589817014q21.347 574 913G0.4580.47 (0.36–0.62)4.71×10−8MDGA2Intronic
rs19983802214q21.347 574 922C0.4580.45 (0.34–0.57)7.14×10−9MDGA2Intronic
rs1258685414q21.347 576 151T0.4280.18 (0.12–0.26)6.81×10−19MDGA2Intronic
rs1115754314q21.347 576 203C0.3000.13 (0.07–0.22)5.97×10−14MDGA2Intronic
rs1115754414q21.347 576 205C0.4270.30 (0.21–0.41)1.37×10−13MDGA2Intronic
rs1258685614q21.347 576 217G0.3040.18 (0.11–0.29)3.77×10−13MDGA2Intronic
rs1115754514q21.347 576 231T0.4630.44 (0.34–0.59)7.81×10−9MDGA2Intronic
rs18364341514q21.347 576 246A0.1820.04 (0.01–0.12)2.77×10−8MDGA2Intronic
rs15032284014q21.347 576 252T0.2160.13 (0.07–0.24)3.90×10−10MDGA2Intronic
rs800546514q21.347 716 040A0.4610.37 (0.27–0.51)4.41×10−10MDGA2Intronic
rs54345314814q21.347 751 911A0.00425.22 (8.29–76.73)1.30×10−8MDGA2Intronic
rs1289018014q21.347 788 012G0.3930.39 (0.28–0.53)2.91×10−9MDGA2Intronic
rs7325185714q21.347 800 734G0.1540.06 (0.02–0.14)9.59×10−10MDGA2Intronic
rs714165314q21.347 828 946C0.3630.25 (0.17–0.37)1.65×10−11MDGA2Intronic
rs714532914q21.347 931 577T0.3760.34 (0.24–0.49)2.59×10−9MDGA2Intronic
rs490077014q21.347 938 755A0.4980.38 (0.28–0.53)9.10×10−9MDGA2Intronic
rs5873132514q21.348 009 745G0.4690.34 (0.25–0.47)7.35×10−11MDGA2Noncoding transcript/intronic
rs11581151917q21.3143 677 790C0.0704.93 (2.83–8.58)1.68×10−8RP11-707O23.17 kb 3′ of RP11-707O23.1
rs5638376317q21.3143 682 323C0.2420.07 (0.03–0.16)1.75×10−9CTC-501O10.117 kb 5′ of CRHR1
rs37341717q21.3143 691 173T0.2390.10 (0.05–0.20)1.24×10−10CRHR16.5 kb 5′ of CRHR1
rs722112417q21.3143 764 301A0.2650.04 (0.02–0.09)6.70×10−14CRHR1Intronic
rs5593813617q21.3143 798 360A0.018151.90 (62.14–371.50)3.37×10−28CRHR1Intronic
rs1187084417q21.3144 141 279A0.2573.98 (2.82–5.62)3.85×10−15KANSL1Intronic
rs37199652517q21.3144 183 317A0.2440.04 (0.02–0.11)2.17×10−10KANSL1Intronic
rs14292027217q21.3144 301 840C0.2480.10 (0.05–0.20)7.45×10−11KANSL1Intronic
rs266863717q21.3144 322 960G0.0955.32 (3.09–9.13)1.43×10−9KANSL1/LRRC37AIntergenic
rs269661817q21.3144 325 635C0.2496.74 (4.02–11.31)5.09×10−13KANSL1/LRRC37A23 kb 5′ of KANSL1

SNV: single nucleotide variant; Chr.: chromosome; MAF: minor allele frequency. #: MAF in Europeans from the 1000 Genomes Project (low-frequency variants in italic); : because of their complete linkage disequilibrium, these variants can be merged into rs71464134. The functional information provided corresponds to the predicted change for the merged reference sequence.