rs190567288

This is a intron variant variant 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.

vaginal microbiome measurement

Fan W et al. “Association between Human Genetic Variants and the Vaginal Bacteriome of Pregnant Women.” Msystems 6(4):e0015821 (2021)

Allele A

OR 0.97

p 3.0e-8

N 315

Small GWAS

East Asian

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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