rs8177813

This variant is located 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.

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.23
p 2.0e-13
N 10,708
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Uterine corpus endometrial carcinoma; Cervical cancer; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma; Acute myeloid leukemia; Sarcoma; Malignant tumor of esophagus

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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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