rs1805313

This is a intron variant variant in the ALAD gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

blood lead amount

Warrington NM et al. “Genome-wide association study of blood lead shows multiple associations near ALAD.” Human Molecular Genetics 24(13):3871-9 (2015)

Allele A

OR 0.14

p 4.0e-14

N 5,433

Large GWAS

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

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About ALAD

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

View all ALAD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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