rs3802932

This variant is located in the FERMT3 gene.

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GWAS Catalog Trait Associations (3)

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

HMG CoA reductase inhibitor use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.08
p 2.0e-11
N 290,385
Major Consortium StudyLarge GWAS
European

Agents acting on the renin-angiotensin system use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.08
p 6.0e-10
N 237,530
Major Consortium StudyLarge GWAS
European

fatty acid amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.05
p 2.0e-8
N 115,006
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

Leukocyte adhesion deficiency 3; not provided; not specified

View on ClinVar →

About FERMT3

Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

View all FERMT3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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