rs1050813

This variant is located in the SERPINE1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Congenital plasminogen activator inhibitor type 1 deficiency; not provided

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Research that mentions this SNP (1)

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Variation in innate immunity genes and risk of multiple myeloma
AssociationN=578Purdue MP et al.(2011)· Hematological Oncology

A case-control study investigating 1,461 tag SNPs in 149 innate immunity gene regions found that genetic variants in SERPINE1, HGF, and CCR7 were associated with multiple myeloma risk. The strongest associations were observed for SERPINE1 rs2227667 (P=2.1×10−5) and HGF rs17501108 (P=5.0×10−5), which remained significant after permutation-based correction for multiple comparisons.

Traits studied:Multiple myeloma
PubMedDOIMetascience Observatory

About SERPINE1

This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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