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. 2016 Apr 6;24(9):1287–1293. doi: 10.1038/ejhg.2016.26

Table 1. Genomic identifiers, type and status of SNPs reported in the study.

SNP Allele Locus Frequency Type Status Effect Odds ratio Relative risk P-value
rs730882263 C/G hg38.chr13:g.28317555C>G 22.50 Exonic Novel (p.Cys1110Ser) 3.810 (1.435–10.11) 3.167 (1.332–7.530) 0.0082
rs576912997 T/A hg38.chr13:g.28319603T>A 97.50 Intronic Novel 170.1 (22.45–1289) 3.037 (2.226–4.144) P<0.0001
rs573848371 —/T hg38.chr13:g. 28322270_28322271insT 45.00 Exonic Novel Truncated protein (1035 aa) 4.547 (2.185–9.463) 2.923 (1.684–5.074) P<0.0001
rs56314249 C/T hg38.chr13:g.28322842C>T 60.00 Exonic Knowna Synonymous 5.882 (2.947–11.74) 2.941 (1.859–4.653) P<0.0001
rs558381447 T/G hg38.chr13:g.28327579T>G 12.50 Intronic Novel 3.014 (0.9188–9.885) 2.750 (0.9118–8.294) 0.1019
rs555490448 —/T hg38.chr13:g. 28329667_28329668insT 12.50 Exonic Novel Truncated protein (888aa) 3.014 (0.9188–9.885) 2.750 (0.9118–8.294) 0.1019
rs537403174 T/G hg38.chr13:g.28317613T>G 12.50 Intronic Novel 3.014 (0.9188–9.885) 2.750 (0.9118–8.294) 0.1019
rs537105078 C/G hg38.chr13:g.28327589C>G 22.50 Intronic Novel 3.810 (1.435–10.11) 3.167 (1.332–7.530) 0.0082
rs2296189 A/G hg38.chr13:g.28319505 A>G 60.00 Exonic Novel Synonymous 5.882 (2.947–11.74) 2.941 (1.859–4.653) P<0.0001
rs148695719 T/A hg38.chr13:g.28322872T>A 2.50 Exonic Knowna Synonymous 2.025 (0.1799–22.78) 2.000 (0.1848–21.65) 1.00

Numbers in parenthesis indicate confidence interval at 95%.

a

Also reported in the current study.