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POLE

From SNPedia
is agene
is mentioned by
ClinVarPOLE
GeneCardsPOLE
DiseasesPOLE
wikipediaPOLE
googlePOLE
gopubmedPOLE
EVSPOLE
HEFalMpPOLE
MyGene2POLE
23andMePOLE
# SNPs16
 Max MagnitudeChromosome positionSummary
rs10575199430132,676,598
rs10575199440132,676,599
rs10575199450132,673,703
rs116162724132,676,159
rs138207610132,676,611
rs1390756377132,676,594
rs143690372132,676,616
rs1466396520132,675,752
rs200403177132,673,598
rs3981225150132,643,404
rs4833529097132,673,664
rs4883543132,625,418
rs57447601132,676,107
rs5744761132,675,353
rs57448570132,659,414
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