Positiona | Location | Nucleotide presentb | Â | Â | Â | Â | Derived allele frequency | Possible consequencesc | |||
---|---|---|---|---|---|---|---|---|---|---|---|
 |  | Human | Chimp | Cow | Dog | Rat | Mouse | AA | Han | EU |  |
28187 | 5' sequence | G/A | G | n/a | n/a | n/a | n/a | 0.02 | 0 | 0 | Disrupts NF-1 site |
41893 | Intron 2 | A/G | A | A | G | A | A | 0 | 0 | 0.02 | Â |
42202 | Intron 2 | G/C | G | G | G | - | - | 0.04 | 0 | 0 | Disrupts HNF-1 site |
42218 | Intron 2 | T/C | T | T | T | C | C | 0.07 | 0 | 0 | Disrupts NF-1 site |
42221 | Intron 2 | C/T | C | C | C | C | C | 0 | 0 | 0.02 | Disrupts NF-1 site |
42225 | Intron 2 | C/A | C | C | C | C | C | 0.07 | 0.18 | 0.21 | Disrupts NF-1 site |
42267 | Intron 2 | C/T | C | C | C | A | A | 0.04 | 0 | 0 | Disrupts C/EBP, USF sites |
44896 | Intron 3 | C/T | C | C | C | C | C | 0.29 | 0.47 | 0.31 | Â |
45014 | Exon 4 | C/G | C | C | C | C | C | 0.02 | 0 | 0 | Â |
45045 | Exon 4 | C/T | C | C | C | C | C | 0.02 | 0 | 0 | Radical NS change; Disrupts predicted ESE |
45518 | Exon 5 | C/T | C | C | C | C | G | 0.16 | 0.45 | 0.42 | Â |
45567 | Intron 5 | A/G | A | A | G | C | G | 0.05 | 0 | 0.02 | Disrupts HNF-1 site |
47331 | Intron 7 | G/- | G | G | - | - | - | 0.02 | 0 | 0 | Â |
47537 | Intron 8 | A/C | A | G | G | C | C | 0.05 | 0.15 | 0.21 | Disrupts NF-1 site |
47636 | Intron 8 | T/G | T | T | T | T | T | 0.26 | 0.09 | 0.23 | Â |
48318 | Intron 8 | T/C | T | n/a | - | C | T | 0.02 | 0 | 0.02 | Â |
48342 | Intron 8 | G/A | G | n/a | C | G | G | 0.04 | 0 | 0 | Â |
48419 | Exon 9 | G/A | G | n/a | G | A | A | 0 | 0 | 0.02 | Â |
48621 | 3' sequence | G/A | G | C | T | C | C | 0 | 0 | 0.02 | Â |
48692 | 3' sequence | A/T | A | A | T | G | G | 0.02 | 0 | 0.02 | Â |
48734 | 3' sequence | A/T | A | A | A | A | A | 0 | 0.02 | 0 | Â |