rs1609860

This variant is located in the STAB2 gene.

GWAS Catalog Trait Associations (4)

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

periostin measurement

Allele A
OR 0.33
p 2.0e-241
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.17
p 2.0e-13
N 10,708
Large GWAS
European

Dickkopf-related protein 3 measurement

Allele A
OR 0.27
p 1.0e-192
N 47,745
Large GWAS
European
Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.28
p 4.0e-31
N 10,708
Large GWAS
European

level of laminin subunit beta-1 in blood

Allele A
OR 0.09
p 3.0e-27
N 47,745
Large GWAS
European

monocyte count

Allele A
OR
p 8.0e-10
N 639,696
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 1.0e-9
N 408,112
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters2 publications
View on ClinVar →

About STAB2

This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]

View all STAB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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