RS115452881 POLE
Upload your DNA to see your genotype for this variant.
Associated Conditions
Colorectal cancer
susceptibility to
12
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer
POLE-related disorder
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
Familial colorectal cancer type X
Polymerase proofreading-related adenomatous polyposis
Colorectal cancer
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.9%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in POLE