rs191721403

This is a regulatory region variant variant in the SURF4 gene.

GWAS Catalog Trait Associations (18)

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

E-selectin amount

Allele A
OR 0.33
p 9.0e-53
N 47,745
Large GWAS
European

intercellular adhesion molecule 2 measurement

Allele A
OR 0.32
p 9.0e-44
N 47,745
Large GWAS
European

alkaline phosphatase measurement

Allele A
OR 0.22
p 2.0e-43
N 394,642
Large GWAS
European

CD209 antigen measurement

Allele A
OR 0.32
p 4.0e-38
N 47,745
Large GWAS
European

intestinal-type alkaline phosphatase measurement

Allele A
OR 0.39
p 4.0e-35
N 47,745
Large GWAS
European

C-type lectin domain family 4 member M amount

Allele A
OR 0.26
p 1.0e-31
N 47,745
Large GWAS
European

galectin-4 measurement

Allele A
OR 0.45
p 5.0e-31
N 47,745
Large GWAS
European

interleukin 7 receptor subunit alpha measurement

Allele A
OR 0.22
p 1.0e-28
N 47,745
Large GWAS
European

protein FAM3D measurement

Allele A
OR 0.38
p 6.0e-27
N 47,745
Large GWAS
European

About SURF4

This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all SURF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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