rs3848570

This variant is located in the FBN3 gene.

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GWAS Catalog Trait Associations (1)

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

C-C motif chemokine 25 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele T

OR 0.92

p 8.0e-21

N 997

Small GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

not provided; FBN3-related disorder

View on ClinVar →

About FBN3

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]

View all FBN3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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