Table 1.
CleftSeq regions.
Region | Candidate Gene in Region |
Target Region (GRCh37) | Size (kb) |
|
---|---|---|---|---|
previous GWAS hits | 1p36 | PAX7 | chr1: 18,772,300 – 19,208,054 | 435.8 |
| ||||
1p22 | ARHGAP29 | chr1: 94,324,660 – 95,013,109 | 688.4 | |
| ||||
1q32 | IRF6 | chr1: 209,837,199 – 210,468,406 | 631.2 | |
| ||||
8q24 | -- | chr8: 129,295,896 – 130,354,946 | 1059.1 | |
| ||||
10q25 | VAX1 | chr10: 118,421,625 – 119,167,424 | 745.8 | |
| ||||
17p13 | NTN1 | chr17: 8,755,114 – 9,266,060 | 510.9 | |
| ||||
17p22 | NOG | chr17: 54,402,837 – 54,957,390 | 554.6 | |
| ||||
20q12 | MAFB | chr20: 38,902,646 – 39,614,513 | 711.9 | |
| ||||
previous linkage hit | 9q22 | FOXE1 | chr9: 100,357,692 – 100,876,841 | 519.1 |
| ||||
candidate gene regions
(evidence for rare variants) |
4p16 | MSX1 | chr4: 4,825,126 – 4,901,385 | 76.3 |
| ||||
14q22 | BMP4 | chr14: 54,382,690 – 54,445,053 | 62.4 | |
| ||||
10q26 | FGFR2 | chr10: 123,096,374 – 123,498,771 | 402.4 | |
| ||||
9q22 | PTCH1 | chr9: 98,133,647 – 98,413,162 | 279.5 |