rs118070675

This variant is located in the CACNA1H gene.

▶

GWAS Catalog Trait Associations (2)

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

tryptase beta-2 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele G

OR 0.42

p 3.0e-18

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

urticaria

McSweeney SM et al. “Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.” The Journal of Allergy and Clinical Immunology 153(2):521-526.e11 (2024)

Allele C

OR 1.18

p 3.0e-10

N 664,970

Meta-analysisLarge GWAS

European

▶

ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About CACNA1H

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]