Table 3 Extra-genic SNPs with a nominal p-value < 10-5mapping in regions recently annotated in ENCODE [[32]]
From: Pathways systematically associated to Hirschsprung’s disease
SNP | Nominal p-value | Adj. p-value (BH) | Chip | RefSeq genes | Feature | Proteins bound | Motifs changed |
|---|---|---|---|---|---|---|---|
rs2435367 | 8.067×10-11 | 2.2083×10-06 | Sty | 5.9 kb 5′ of RET | DNAse hypersensitivity | ||
rs2505526 | 8.353×10-07 | 0.01506847 | Sty | 7.5 kb 3′ of RASGEF1A | Pax-4 | ||
rs16838932 | 4.459×10-07 | 0.021091873 | Nsp | 421 kb 5′ of SLC39A10 | Ultraconserved region [35] | ||
rs2659635 | 7.098×10-06 | 0,08204207 | Sty | 125 kb 5′ of XRCC6BP1 | Foxj2 | ||
rs4570660 | 7.744×10-06 | 0,08479448 | Sty | 65 kb 3′ of APOBEC1 | DNAse hypersensitivity | Sox | |
rs12067906 | 9.584×10-06 | 0,09994469 | Sty | 96 kb 5′ of RGS21 | DNAse hypersensitivity | RAD21 | Gfi1, HLF |