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%.
Also reported in the current study.