RS483352909 POLE
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What This Variant Does
"rs483352909, also known as c.1270C>
Associated Conditions
Colorectal cancer
susceptibility to
12
Hereditary cancer-predisposing syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Neoplasm
Polymerase proofreading-related adenomatous polyposis
Familial colorectal cancer type X
Colorectal cancer
susceptibility to
12
Hereditary cancer-predisposing syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Other Variants in POLE