Supplementary Table 1. Ninety-six SNPs associated with colorectal carcinoma risk, selected for genotyping in a series of 770 Italian patients.

SNP 1 / Region / Gene / Type / Alleles 2 / MAF in our series 3 / Reference
rs1801131 / 1p36.22 / MTHFR / Missense / A/C / 0.30 / (Thomas et al. 2011)
rs1801133 / 1p36.22 / MTHFR / Missense / G/A / 0.46 / (Teng et al. 2013)
rs3219489 / 1p34.1 / MUTYH / Missense / G/C / 0.22 / (Picelli et al. 2010)
rs3918290 / 1p21.3 / DPYD / Splice donor / C/T / NA / (Thomas et al. 2011)
rs5275 / 1q31.1 / PTGS2 / 3'-UTR / A/G / 0.33 / (Lurje et al. 2008)
rs6691170 / 1q41 / - / Intergenic / C/A / 0.40 / (Houlston et al. 2010)
rs11118883 / 1q41 / RP11-815M8.1 / Intronic / G/A / 0.33 / (Spain et al. 2012)
rs6687758 / 1q41 / - / Intergenic / A/G / 0.21 / (Houlston et al. 2010)
rs7578597 / 2p21 / THADA / Missense / A/G / 0.09 / (Cheng et al. 2011)
rs1800932 / 2p16.3 / MSH6 / Synonymous / A/G / 0 / (Picelli et al. 2010)
rs17626122 / 2q33.3 / PARD3B / Intronic / A/G / 0.45 / (Fernandez-Rozadilla et al. 2013)
rs2234671 / 2q35 / CXCR1 / Missense / C/G / 0 / (Gerger et al. 2011)
rs10929302 / 2q37.1 / UGT1A6 / Intronic / G/A / 0.30 / (Thomas et al. 2011)
rs1052133 / 3p25.3 / OGG1 / Missense / C/G / NA / (Cecchin et al. 2011)
rs354476 / 3p25.1 / NUP210 / 3'-UTR / A/G / 0.49 / (Landi et al. 2012)
rs2102302 / 3p25.1 / GALNT15 / Upstream / A/G / 0.40 / (Abuli et al. 2011)
rs10936599 / 3q26.2 / MYNN / Synonymous / G/A / 0.23 / (Houlston et al. 2010)
rs16857540 / 3q26.31 / NLGN1 / Intronic / C/G / 0.20 / (Fernandez-Rozadilla et al. 2013)
rs2305948 / 4q12 / KDR / Missense / G/A / 0.09 / (Gerger et al. 2011)
rs4444903 / 4q25 / EGF / 5'-UTR / A/G / 0.42 / (Lurje et al. 2008)
rs2853668 / 5p15.33 / TERT / Upstream / C/A / 0.28 / (Peters et al. 2012)
rs3729740 / 5p13.1 / LIFR / Splice acceptor / G/A / 0.00 / (Kim et al. 2011)
rs459552 / 5q22.2 / APC / Missense / T/A / 0.22 / (Tranah et al. 2005)
rs3828599 / 5q33.1 / GPX3 / Intronic / G/A / 0.26 / (Haug et al. 2012)
rs8177447 / 5q33.1 / GPX3 / Missense / G/A / 0.15 / (Haug et al. 2012)
rs736775 / 5q33.1 / GPX3 / Downstream / G/A / 0.37 / (Haug et al. 2012)
rs2278107 / 6q16.1 / EPHA7 / Missense / A/G / 0.02 / (Kim et al. 2010)
rs7758229 / 6q25.3 / SLC22A3 / Intronic / C/A / 0.24 / (Cui et al. 2011)
rs1990172 / 7p21.1 / MACC1 / Intronic / A/C / 0.29 / (Lang et al. 2012)
rs864745 / 7p15.1 / JAZF1 / Intronic / G/A / 0.50 / (Cheng et al. 2011)
rs2227983 / 7p11.2 / EGFR / Missense / G/A / 0.27 / (Lurje et al. 2008)
rs3757441 / 7q36.1 / EZH2 / Intronic / A/G / 0.22 / (Crea et al. 2012)
rs11986055 / 8p11.21 / IKBKB / Intronic / A/C / 0.03 / (Coghill et al. 2011)
rs1954727 / 8q23.1 / ANGPT1 / 3'-UTR / C/G / 0.26 / (Dai et al. 2012b)
rs16892766 / 8q23.3 / EIF3H / Downstream / A/C / 0.08 / (Peters et al. 2012)
rs2465403 / 8q24.12 / COLEC10 / Intronic / A/G / 0.29 / (Fernandez-Rozadilla et al. 2013)
rs10505477 / 8q24.21 / CASC8 / Intronic / G/A / 0.50 / (Zanke et al. 2007)
rs6983267 / 8q24.21 / CASC8 / Intronic / C/A / 0.48 / (Cui et al. 2011)
rs10956369 / 8q24.21 / CASC8 / Intronic / A/T / 0.37 / (Lascorz et al. 2010)
rs7014346 / 8q24.21 / CASC8 / Intronic / G/A / 0.33 / (Tenesa et al. 2008)
rs7034462 / 9q22.33 / TGFBR1 / Regulatory region / G/A / 0.08 / (Pasche et al. 2010)
rs11568785 / 9q22.33 / TGFBR1 / Intronic / A/G / 0.08 / (Pasche et al. 2010)
rs1213266 / 9q33.2 / PTGS1 / Intronic / G/A / 0.09 / (Coghill et al. 2011)
rs4836885 / 9q33.2 / PTGS1 / Intronic / A/G / 0.12 / (Coghill et al. 2011)
rs10306155 / 9q33.2 / PTGS1 / Intronic / G/A / 0.11 / (Coghill et al. 2011)
rs10795668 / 10p14 / RNA5SP299 / Upstream / G/A / 0.28 / (Tomlinson et al. 2008)
rs11014993 / 10p12.1 / MYO3A / Intronic / A/G / 0.23 / (Lascorz et al. 2010)
rs12296076 / 11q23.1 / COLCA1 / 3'-UTR / A/G / 0.30 / (Lascorz et al. 2010)
rs3802842 / 11q23.1 / COLCA2 / Intronic / A/C / 0.27 / (Peters et al. 2012)
rs10749971 / 11q23.1 / COLCA2 / Downstream / A/G / 0.37 / (Dai et al. 2012a)
rs2306283 / 12p12.1 / SLCO1B1 / Missense / A/G / 0.43 / (Ozhan et al. 2013; Thomas et al. 2011)
rs706793 / 12q13.12 / ASIC1 / Synonymous / G/A / 0.45 / (Spain et al. 2012)
rs7972465 / 12q13.12 / CERS5 / Intronic / A/C / 0.35 / (Spain et al. 2012)
rs7136702 / 12q13.12 / Intergenic / G/A / 0.34 / (Spain et al. 2012)
rs11169552 / 12q13.12 / ATF1 / Upstream / G/A / 0.25 / (Houlston et al. 2010)
rs10876844 / 12q13.2 / RP11-644F5.16 / Intronic / C/A / 0.38 / (Fernandez-Rozadilla et al. 2013)
rs10784749 / 12q15 / - / Intergenic / G/C / 0.23 / (Fernandez-Rozadilla et al. 2013)
rs7961581 / 12q21.1 / TSPAN8 / Intronic / A/G / 0.34 / (Cheng et al. 2011)
rs2946834 / 12q23.2 / IGF1 / Downstream / G/A / 0.33 / (Winder et al. 2010)
rs6214 / 12q23.2 / IGF1 / 3'-UTR / G/A / 0.37 / (Winder et al. 2010)
rs7315438 / 12q24.21 / Intergenic / A/G / 0.48 / (Peters et al. 2012)
rs12299484 / 12q24.32 / TMEM132C / Intronic / G/A / 0 / (Crous-Bou et al. 2012)
rs7325568 / 13q14.11 / - / Intergenic / G/A / 0.49 / (Fernandez-Rozadilla et al. 2013)
rs3803185 / 13q14.2 / ARL11 / Missense / A/G / 0.47 / (Abuli et al. 2011)
rs553717 / 13q31.3 / GPC5 / Missense / G/A / 0.16 / (Kim et al. 2010)
rs4444235 / 14q22.2 / BMP4 / Downstream / G/A / 0.46 / (Houlston et al. 2008)
rs12898159 / 14q22.2 / BMP4 / Downstream / G/A / 0.46 / (Lubbe et al. 2012b)
rs17563 / 14q22.2 / BMP4 / Missense / A/G / 0.48 / (Lubbe et al. 2012b)
rs2855532 / 14q22.2 / BMP4 / Intronic / G/A / 0.40 / (Lubbe et al. 2012b)
rs2761884 / 14q22.2 / BMP4 / Intronic / C/A / 0.37 / (Lubbe et al. 2012b)
rs1957636 / 14q22.2 / Intergenic / G/A / 0.39 / (Lubbe et al. 2012a)
rs11549465 / 14q23.2 / HIF1A / Missense / G/A / 0.16 / (Gerger et al. 2011)
rs4243761 / 15q12 / RP11-1084I9.1 / Intronic / A/C / 0.39 / (Fernandez-Rozadilla et al. 2013)
rs16969681 / 15q13.3 / SCG5 / Downstream / G/A / 0.13 / (Tomlinson et al. 2011)
rs4779584 / 15q13.3 / - / Intergenic / C/T / NA / (Peters et al. 2012)
rs11632715 / 15q13.3 / GREM1 / Upstream / G/A / 0.47 / (Tomlinson et al. 2011)
rs10318 / 15q13.3 / GREM1 / 3'-UTR / G/A / 0.23 / (Dai et al. 2012a)
rs1800588 / 15q21.3 / LIPC / Intronic / G/A / 0.21 / (Crous-Bou et al. 2012)
rs2016347 / 15q26.3 / IGF1R / 3'-UTR / A/C / 0.43 / (Winder et al. 2010)
rs3765129 / 16p13.11 / ABCC1 / Intronic / G/A / 0.14 / (Thomas et al. 2011)
rs9929218 / 16q22.1 / CDH1 / Intronic / G/A / 0.34 / (Houlston et al. 2008)
rs1800566 / 16q22.1 / NQO1 / Missense / G/A / 0.22 / (Ding et al. 2012)
rs709805 / 16q24.1 / GSE1 / 3'-UTR / G/A / 0.29 / (Landi et al. 2012)
rs78378222 / 17p13.1 / TP53 / 3'-UTR / A/C / 0.01 / (Stacey et al. 2011)
rs2853533 / 18p11.32 / TYMS / Intronic / C/G / 0.18 / (Thomas et al. 2011)
rs2847153 / 18p11.32 / TYMS / Intronic / G/A / 0.26 / (Thomas et al. 2011)
rs4939827 / 18q21.1 / SMAD7 / Intronic / A/G / 0.41 / (Peters et al. 2012)
rs4464148 / 18q21.1 / SMAD7 / Intronic / A/G / 0.41 / (Dai et al. 2012a)
rs10411210 / 19q13.11 / RHPN2 / Intronic / G/A / 0.13 / (Houlston et al. 2008)
rs7259371 / 19q13.11 / RHPN2 / Intronic / G/A / 0.26 / (Dai et al. 2012a)
rs355527 / 20p12.3 / - / Intergenic / G/A / 0.27 / (Dai et al. 2012a)
rs961253 / 20p12.3 / - / Intergenic / A/C / NA / (Houlston et al. 2008)
rs4813802 / 20p12.3 / BMP2 / Upstream / A/C / 0.30 / (Lubbe et al. 2012a)
rs2567608 / 20p11.21 / SSTR4 / Missense / C/T / NA / (Kim et al. 2010)
rs4925386 / 20q13.33 / LAMA5 / Intronic / G/A / 0.25 / (Houlston et al. 2010)
rs361863 / 22q12.3 / ISX / Missense / G/A / 0.29 / (Kim et al. 2011)

1 Ordered according to chromosomal position, based on Ensembl database; 2 Minor allele indicated as the second base;3MAF = frequency of the minor allele; genotypes were not available (NA) for five SNPs because of poor clustering.

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