Table 3 List of potential novel SNP modifiers associated in the case-only analysis for BRCA1 mutation carriers.
Location | SNP namea | Chrb | Positionc | Nearest gene | Localisation | Estimated effect allele | Referent allele | r² d | Frequencye | ORf | Pg | ORERh | PER¯i | HRCIMBAj | PCIMBAk | ORBCACl | PBCACm | Phetn | Target geneo |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
11p11.2 | rs80221606 | 11 | 47560211 | CELF1 | Intronic | AT | A | 0.76 | 0.10 | 0.78 | 1.12e−10 | 0.76 | 6.36e−07 | 0.98 | 7.60e−01 | 1.04 | 0.01 | 1.39e−03 | Level 2 |
17q21.2 | rs58117746 | 17 | 39305775 | KRTAP4-5 | Pepshift | TGGCAGCAGCTGGGGC | T | 0.60 | 0.39 | 1.18 | 4.33e−10 | 1.15 | 7.71e−05 | 1.05 | 2.20e−02 | 1.02 | 0.26 | 4.60e−04 | – |
17q21.2 | rs5820435 | 17 | 39961558 | LEPREL4 | Intronic | A | C | 0.51 | 0.45 | 0.82 | 9.55e−12 | 0.85 | 7.71e−05 | 1.01 | 9.00e−01 | 1.02 | 0.07 | 1.06e−08 | – |
17q21.2 | rs11079012 | 17 | 39912880 | JUP | Intronic | G | C | 0.66 | 0.31 | 1.17 | 7.06e−09 | 1.18 | 2.35e−05 | 0.98 | 3.10e−01 | 1.01 | 0.51 | 1.15e−07 | Level 2 |