rs1998056

This is a regulatory region variant variant in the SERPINA6 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 Z-dependent protease inhibitor 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 C

OR 0.21

p 1.0e-13

N 2,935

Large GWAS

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

About SERPINA6

This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]

View all SERPINA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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