RS5030861 PAH

Health Risk Chr 12:102840399
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What This Variant Does
"Phenylketonuria
Associated Conditions
Phenylketonuria
Inborn genetic diseases
PAH-related disorder
Pituitary hormone deficiency
combined
2
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Phenylketonuria
Phenylketonuria
Inborn genetic diseases
PAH-related disorder
Pituitary hormone deficiency
combined
2
GWAS Studies (5)
Trait Risk Allele OR / Beta P-value Study
Phenylalanine levels T OR: 1.64 2E-35 PubMed
Phenylalanine levels — OR: 1.72 3E-28 PubMed
Gamma-glutamylphenylalanine levels T OR: 1.18 5E-19 PubMed
Phenylpyruvate levels T OR: 0.94 1E-12 PubMed
Phenyllactate (pla) levels T OR: 0.77 6E-9 PubMed
Other Variants in PAH
rs5030858 rs62642936 rs62514959 rs62508698 rs76296470 rs5030849 rs62516151 rs5030847 rs62514891 rs5030843
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