RS139075637 POLE
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What This Variant Does
"aka c.861T>
Associated Conditions
Colorectal cancer
susceptibility to
12
Hereditary cancer-predisposing syndrome
Hereditary cancer
POLE-related disorder
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Colorectal cancer
susceptibility to
12
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.2%
1kG SAS
100%
Other Variants in POLE