POLE
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | POLE |
| GeneCards | POLE |
| Diseases | POLE |
| wikipedia | POLE |
| POLE | |
| gopubmed | POLE |
| EVS | POLE |
| HEFalMp | POLE |
| MyGene2 | POLE |
| 23andMe | POLE |
| # SNPs | 28 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519943 | 0 | 132,676,598 | |
| rs1057519944 | 0 | 132,676,599 | |
| rs1057519945 | 0 | 132,673,703 | |
| rs116162724 | 7 | 132,676,159 | |
| rs138207610 | 0 | 132,676,611 | |
| rs139075637 | 1 | 132,676,594 | |
| rs143690372 | 7 | 132,676,616 | |
| rs146639652 | 0 | 132,675,752 | |
| rs200403177 | 0 | 132,673,598 | |
| rs398122515 | 6 | 132,643,404 | |
| rs483352909 | 7 | 132,673,664 | |
| rs4883543 | 0 | 132,625,418 | |
| rs5744760 | 1 | 132,676,107 | |
| rs5744761 | 0 | 132,675,353 | |
| rs5744857 | 0 | 132,659,414 | |
| rs749117997 | 0 | 132,676,548 | |
| rs754982151 | 0 | 132,642,586 | |
| rs757478410 | 0 | 132,632,697 | |
| rs760679746 | 0 | 132,643,331 | |
| rs762636894 | 0 | 132,672,809 | |
| rs763031537 | 0 | 132,639,197 | |
| rs763470055 | 0 | 132,659,328 | |
| rs766086682 | 0 | 132,641,689 | |
| rs766732521 | 0 | 132,632,509 | |
| rs773148245 | 0 | 132,638,070 | |
| rs773589185 | 0 | 132,665,438 | |
| rs778914414 | 0 | 132,642,843 | |
| rs980578884 | 0 | 132,673,217 |
The POLE gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer, and other mutations have been associated with facial dysmorphism, immunodeficiency, livedo, and short stature.GHR
