rs2070709
This variant is located in the SERPINA1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
phospholipids:total lipids ratio, blood VLDL cholesterol amount
phospholipids:total lipids ratio, intermediate density lipoprotein measurement
triglycerides:total lipids ratio, blood VLDL cholesterol amount
polyunsaturated fatty acids to monounsaturated fatty acids ratio
fatty acid amount
cholesterol:total lipids ratio, blood VLDL cholesterol amount
▶ClinVar annotation
About SERPINA1
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
View all SERPINA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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