Table 2. Disease-associated, ARE-disrupting single nucleotide variants.
Summary of significant SNVs identified in [52]. SNVs represented are those falling within 2 base pairs of an ARE containing the GCnnnnTCA core sequence, and with a position weight matrix (PWM) match score >10. For the ARE Sequences column, SNVs are underlined and highlighted in red/blue – the variant that generates a stronger PWM match is highlighted red, and the weaker PWM match is highlighted blue. Allele frequency data are from the 1000 Genomes Project.
| SNP ID | ARE sequence | Allele frequency | Nearest gene | Disease association(s) |
|---|---|---|---|---|
| rs242561 |  |
0.90 | MAPT | Progressive Supranuclear Palsy; Parkinson’s Disease; Corticobasal |
 |
0.10 | Degeneration; Interstitial Lung Disease | ||
| rs241032 |  |
0.57 | CRHR1-IT1 | Parkinson’s Disease |
 |
0.43 | |||
| rs6426833 |  |
0.59 | RNF186 | Ulcerative Colitis |
 |
0.41 | |||
| rs17035378 |  |
0.52 | PLEK | Celiac Disease |
 |
0.48 | |||
| rs369184 |  |
0.85 | TEX14 | Testicular Germ Cell Tumor |
 |
0.15 | |||
| rs4818832 |  |
0.64 | YBEY | Testicular Germ Cell Tumor |
 |
0.36 | |||
| Additional high priority polymorphic AREs: rs6426519, rs9603754, rs9884209, rs12638492, rs13067040, rs16857611, rs62033400, rs62094906 | ||||