Table 1.
Genetic variants co-segregating with early onset diverticulitis in the recruited family. Listed are those genetic variants with population wide allele frequencies less than 5%, based on Exome Aggregation Consortium data, which segregated with disease in the proband’s family. Variants are ordered by their predictive damaging CADD score
| Chr. | Location | Gene | Gene Function | Phred Score | ExAC Frequency |
|---|---|---|---|---|---|
| 12 | 50727870 | FAM186A | Unknown function | 35 | 0.008088 |
| 4 | 113359702 | ALPK1 | Regulation of motor coordination | 34 | 0.01036 |
| 14 | 45403699 | KLHL28 | Transcriptional regulation via control of chromatin structure and function | 32 | 0.01219 |
| 21 | 15561623 | LIPI | Lysophosphatidic acid production | 28.1 | 0.004918 |
| 7 | 72985148 | TBL2 | Stress Signaling and Cell Survival | 25.8 | 0.04004 |
| 9 | 91994026 | SEMA4D | Receptor binding and transmembrane signaling receptor activity | 25.5 | 0.00208 |
| 12 | 55725974 | OR6C3 | Olfactory GPCR | 25.3 | 0.001689 |
| 7 | 107738905 | LAMB4 | Extracellular matrix protein | 23.9 | N/A |
| 17 | 76694990 | CYTH1 | Regulates protein sorting and membrane trafficking | 22.5 | 0.00001651 |
| 15 | 42565572 | TMEM87A | Transmembrane protein of unknown function | 22.5 | 0.000008266 |