Table 1.
Summary of the Identified SNPs in the Targeted HNF4 Regions
| SNP | Change | Position | MAF |
|---|---|---|---|
| rs4810424 | G>C | 42,408,437 (9,428 bp upstream Exon 1D) | C=0.203 |
| rs1884613 | C>G | 42,413,829 (4,036 bp upstream Exon 1D) | G=0.186 |
| rs1884614 | C>T | 42,413,933 (3,982 bp upstream Exon 1D) | T=0.186 |
| rs6031543 | C>G | 42,413,979 (3,935 bp upstream Exon 1D) | G=0.157 |
| rs2144908 | G>A | 42,419,131 (Intron 1A-1D) | A=0.157 |
| rs6031550 | C>T | 42,423,085 (Intron 1A-1D) | T=0.190 |
| rs6031551 | T>C | 42,423,127 (Intron 1A-1D) | C=0.180 |
| rs16988991 | G>A | 42,423,191 (Intron 1A-1D) | A=0.203 |
| rs6031552 | C>A | 42,423,208 (Intron 1A-1D) | A=0.167 |
| rs6103716 | A>C | 42,433,044 (Intron 1A-1D) | C=0.242 |
| rs6031558 | G>C | 42,433,057 (Intron 1A-1D) | C=0.300 |
| rs6130608 | T>C | 42,457,422 (5,933 bp upstream Exon 1A) | C=0.250 |
| rs2425637 | G>T | 42,457,463 (5,892 bp upstream Exon 1A) | G=0.382 |
| rs2425639 | A>G | 42,460,924 (2,431 bp upstream Exon 1A) | A=0.400 |
| rs2425640 | A>G | 42,461,451 (1,904 bp upstream Exon 1A) | A=0.295 |
| rs3212172 | A>G | 42,461,804 (1,551 bp upstream Exon 1A) | G=0.125 |
| rs1800963 | A>C | 42,462,699 (656 bp upstream Exon 1A) | C=0.379 |
| rs2071997 | G>A | 42,463,849 (661 bp upstream Exon 1B) | A=0.125 |
| rs736824 | T>C | 42,468,074 (Intron 1A/1B-2) | C=0.329 |
| rs745975 | C>T | 42,468,107 (Intron 1A/1B-2) | T=0.250 |
| rs3212183 | C>T | 42,468,552 (Intron 2-3) | T=0.487 |
| rs3212184 | G>C | 42,468,574 (Intron 2-3) | C=0.459 |
| rs1885088 | G>A | 42,472,454 (Intron 3-4) | A=0.222 |
| rs1800961 | C>T (T130I) | 42,475,778 (Exon 4) | T=0.107 |
| rs3212195 | G>A | 42,476,509 (Intron 4-5) | A=0.190 |
| rs3212198 | C>T | 42,477,775 (Intron 4-5) | C=0.369 |
| rs3818247 | G>T | 42,490,894 (Intron 9-10) | T=0.283 |
SNPs revealed by sequencing with a frequency greater than 5% in the inflammatory bowel disease French Canadian sample population (20 Crohn’s disease and 20 ulcerative colitis patients). The SNP positions are based on the March 2006 Homo sapiens high coverage assembly from the Genome Reference Consortium. MAF=minor allele frequency.