rs721199
This variant is located in the HAL gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cutaneous squamous cell carcinoma
Sarin KY et al. “Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 11(1):820 (2020)
Allele T
OR 0.06
p 4.0e-8
N 699,198
Meta-analysisLarge GWAS
European
About HAL
Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
View all HAL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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