rs181647086

This is a upstream gene variant variant in the C1QTNF1 gene.

GWAS Catalog Trait Associations (3)

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

amount of collagen alpha-1(IV) chain (human) in blood

Allele C
OR 0.52
p 1.0e-36
N 47,745
Large GWAS
European

level of collagen alpha-1(XVIII) chain in blood

Allele C
OR 0.29
p 1.0e-13
N 47,745
Large GWAS
European

About C1QTNF1

Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all C1QTNF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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