RS1014146082 POLE

Health Risk Chr 12:132687362
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Associated Conditions
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Colorectal cancer
susceptibility to
12
Intrauterine growth retardation
metaphyseal dysplasia
adrenal hypoplasia congenita
genital anomalies
and immunodeficiency
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Colorectal cancer
susceptibility to
12
Intrauterine growth retardation
metaphyseal dysplasia
Other Variants in POLE
rs1555229108 rs483352909 rs398122515 rs202220778 rs531482240 rs372169366 rs775661457 rs147692158 rs375931088 rs5744800
Ask Dr. Hemsworth about this variant