Description of five RET single nucleotide polymorphisms and their position with respect to the most proximal SNP (the locus at –5 nt of the basal promoter)
| Allele frequency (%)* | ||||||
|---|---|---|---|---|---|---|
| Single nucleotide polymorphism location | Distance from the most proximal SNP (nt) | Codon involved | Nucleotide substitution | Hirschsprung’s disease | Control | p Value |
| Allele frequencies in Hirschsprung’s disease and control individuals are reported, along with the significance of their difference measured by Fisher’s exact test. | ||||||
| *Allele frequencies are given for the most frequent allele in controls (underlined in previous column). | ||||||
| Basal promoter (−5) | 0 | G>A | 30 | 76 | <0.00001 | |
| Basal promoter (−1) | 4 | C>A | 83 | 60 | 0.0008 | |
| Exon 2 | 23461 | A45A | GCG>GCA | 38 | 70 | 0.00001 |
| Exon 11 | 37608 | G691S | GGT>AGT | 88 | 81 | 0.23 |
| Exon 13 | 41332 | L769L | CTT>CTG | 53 | 79 | 0.0002 |