RS62642937 PAH

Health Risk Chr 12:102843706
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What This Variant Does
"[OMIM:?]
Associated Conditions
Hyperphenylalaninemia
Phenylketonuria
Marfanoid habitus and intellectual disability
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Inborn genetic diseases
PAH-related disorder
Hyperphenylalaninemia
Phenylketonuria
Marfanoid habitus and intellectual disability
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Inborn genetic diseases
PAH-related disorder
Other Variants in PAH
rs5030861 rs5030858 rs62642936 rs62514959 rs62508698 rs76296470 rs5030849 rs62516151 rs5030847 rs62514891
Ask Dr. Hemsworth about this variant