Summary of All Genes and SNPs Assessed

GeneChromosome locationSNPRegionMAFMajor/Minor alleleFDR HWE probabilityColon homozygote are ORRectal homozygote rare OR
Smad14q31rs714195Intronic0.42G/A0.730.99 (0.80–1.21)1.02 (0.74–1.39)
rs65373555 upstream0.12A/G0.881.35 (0.72–2.54)0.93 (0.37–2.32)
rs2118438Intronic0.19G/A0.611.11 (0.75–1.65)1.29 (0.72–2.34)
rs1016792Intronic0.19T/C1.001.00 (0.69–1.46)0.90 (0.51–1.58)
rs125050853 downstream0.23A/G0.890.88 (0.65–1.20)0.91 (0.57–1.47)
Smad218q21.1rs1787199Intronic0.46A/T1.001.24 (1.03–1.51)0.83 (0.63–1.08)
rs1792658Intronic0.21A/C0.961.18 (0.88–1.58)1.12 (0.72–1.74)
rs1792689Intronic0.13C/T0.951.30 (0.79–2.13)0.95 (0.41–2.22)
rs4940086Intronic0.33T/C1.001.33 (1.06–1.66)1.05 (0.77–1.42)
Smad315q22.33rs731874Intronic0.28G/A1.001.06 (0.82–1.37)0.94 (0.65–1.37)
rs745103Intronic0.45T/C0.860.96 (0.79–1.16)0.98 (0.75–1.29)
rs750766Unknown0.48G/A1.000.93 (0.77–1.13)1.06 (0.81–1.39)
rs893473Intronic0.17C/T1.000.99 (0.69–1.40)1.06 (0.71–1.59)
rs991157Intronic0.30G/A1.000.96 (0.75–1.23)1.07 (0.75–1.51)
rs1470003Intronic0.48G/C0.960.95 (0.79–1.15)1.19 (0.90–1.57)
rs1498506Intronic0.48A/C1.000.69 (0.57–0.84)0.96 (0.72–1.26)
rs1866317Unknown0.11C/G1.000.92 (0.48–1.76)1.65 (0.77–3.54)
rs1992215Unknown0.33T/C1.001.00 (0.80–1.25)0.86 (0.62–1.21)
rs2118610Intronic0.45G/A0.610.94 (0.78–1.14)1.02 (0.77–1.36)
rs2118611Intronic0.20A/G0.990.94 (0.66–1.34)0.93 (0.62–1.42)
rs2414937Intronic0.20G/C1.000.67 (0.47–0.97)1.02 (0.63–1.67)
rs37433433 UTR0.24T/C1.001.15 (0.87–1.52)1.10 (0.77–1.58)
rs3784681Intronic0.29G/C0.960.91 (0.71–1.17)0.79 (0.56–1.11)
rs3825977Intronic0.19C/T1.001.01 (0.72–1.42)0.76 (0.47–1.24)
rs4147358Intronic0.22C/A0.960.99 (0.73–1.33)0.89 (0.60–1.33)
rs4601989Intronic0.24C/T0.680.81 (0.60–1.08)0.66 (0.44–1.00)
rs4776881Intronic0.44T/C1.001.07 (0.89–1.30)1.21 (0.92–1.60)
rs4776890Intronic0.40T/G0.960.97 (0.80–1.19)0.96 (0.72–1.28)
rs4776892Intronic0.18A/T0.451.00 (0.67–1.48)1.14 (0.69–1.88)
rs7163381Intronic0.26G/A1.000.79 (0.61–1.03)1.06 (0.74–1.51)
rs7173811Intronic0.47C/T0.961.06 (0.88–1.28)0.96 (0.73–1.26)
rs7176870Intronic0.43A/G1.001.06 (0.88–1.29)1.19 (0.90–1.58)
rs7181556Intronic0.24C/T0.990.91 (0.69–1.22)0.75 (0.50–1.12)
rs7183244Intronic0.39C/T0.841.00 (0.81–1.23)1.04 (0.77–1.41)
rs9972423Intronic0.37T/A1.000.97 (0.79–1.20)1.27 (0.94–1.73)
rs11071933Intronic0.33C/G1.000.94 (0.75–1.16)0.92 (0.68–1.25)
rs11637581Intronic0.28C/T0.950.98 (0.76–1.28)1.11 (0.77–1.59)
rs11639295Intronic0.31C/T1.000.88 (0.70–1.12)0.83 (0.59–1.16)
rs12102171Intronic0.17C/T0.860.90 (0.62–1.30)0.84 (0.49–1.43)
rs12708492Intronic0.48C/T1.001.02 (0.85–1.24)1.10 (0.84–1.44)
rs12901071Intronic0.34A/G0.680.67 (0.53–0.84)0.85 (0.60–1.20)
rs12904944Intronic0.34G/A1.000.81 (0.64–1.01)1.07 (0.79–1.47)
rs12907997Intronic0.50C/T1.000.95 (0.78–1.14)0.91 (0.70–1.20)
rs12915039Intronic0.24A/C1.001.01 (0.76–1.35)1.08 (0.72–1.61)
rs16950687Intronic0.28A/G1.000.93 (0.72–1.21)1.22 (0.85–1.76)
rs17293443Intronic0.22T/C0.920.85 (0.61–1.19)1.74 (1.08–2.82)
Smad418q21.1rs8096092Intronic0.38C/A0.681.00 (0.81–1.23)1.17 (0.87–1.59)
rs10502913Intronic0.24G/A0.740.81 (0.61–1.08)1.09 (0.72–1.67)
Smad718q21.1rs1316447Intronic0.19C/T1.000.86 (0.60–1.23)0.88 (0.53–1.45)
rs2337106Intronic0.47C/G1.000.88 (0.72–1.06)1.11 (0.85–1.45)
rs2337107Intronic0.41G/A0.991.12 (0.92–1.36)0.97 (0.74–1.28)
rs3736242Intronic0.22G/A1.000.94 (0.69–1.28)1.33 (0.84–2.09)
rs3764482Intronic0.19C/T1.001.25 (0.86–1.81)0.60 (0.34–1.07)
rs4464148Intronic0.31T/C1.001.06 (0.83–1.35)0.76 (0.54–1.09)
rs4939827Intronic0.49T/C1.000.79 (0.66–0.95)0.95 (0.73–1.23)
rs4939832Intronic0.24A/G1.001.00 (0.76–1.32)1.29 (0.87–1.92)
rs7238442Intronic0.46T/C0.821.12 (0.93–1.35)0.92 (0.71–1.20)
rs12456328Intronic0.13C/T1.000.81 (0.49–1.33)1.16 (0.51–2.66)
rs12953717Intronic0.42C/T1.001.36 (1.12–1.65)0.90 (0.68–1.19)
TGFβ119q13.1rs18004695 upstream0.31G/A1.000.65 (0.51–0.84)0.98 (0.71–1.38)
rs4803455Intronic0.48C/A0.921.43 (1.18–1.73)1.04 (0.79–1.35)
TGFβR19q22rs1571590Intronic0.20A/G0.671.39 (0.98–1.96)1.42 (0.85–2.39)
rs6478974Intronic0.49T/A1.000.86 (0.71–1.04)0.84 (0.63–1.10)
rs10733710Intronic0.20G/A0.961.06 (0.77–1.46)1.22 (0.78–1.91)

NOTE: MAF and FDR-adjusted Hardy-Weinberg Equilibrium (FDR HWE) based on White control population. ORs are adjusted for age, center, race, and sex.