rs10043775

This is a variant in the FBXO38 gene that changes a serine to an proline.

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GWAS Catalog Trait Associations (2)

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

chronic obstructive pulmonary disease

Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele T
OR 1.09
p 2.0e-13
N 251,091
Large GWAS
multi-ancestry

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.12
p 2.0e-11
N 1,164,961
Meta-analysisLarge GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.12
p 1.0e-10
N 1,028,980
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter2 publications

Distal hereditary motor neuropathy type 2; Neuronopathy, distal hereditary motor, type 2D

View on ClinVar →

About FBXO38

This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

View all FBXO38 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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