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POLE

From SNPedia
is agene
is mentioned by
ClinVarPOLE
GeneCardsPOLE
DiseasesPOLE
wikipediaPOLE
googlePOLE
gopubmedPOLE
EVSPOLE
HEFalMpPOLE
MyGene2POLE
23andMePOLE
# SNPs28
 Max MagnitudeChromosome positionSummary
rs10575199430132,676,598
rs10575199440132,676,599
rs10575199450132,673,703
rs1161627247132,676,159
rs1382076107132,676,611
rs1390756371132,676,594
rs1436903727132,676,616
rs1466396520132,675,752
rs2004031777132,673,598
rs3981225150132,643,404
rs4833529097132,673,664
rs4883543132,625,418
rs57447601132,676,107
rs5744761132,675,353
rs57448570132,659,414
rs749117997132,676,548
rs754982151132,642,586
rs757478410132,632,697
rs760679746132,643,331
rs762636894132,672,809
rs763031537132,639,197
rs763470055132,659,328
rs766086682132,641,689
rs766732521132,632,509
rs773148245132,638,070
rs773589185132,665,438
rs778914414132,642,843
rs9805788840132,673,217

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