rs72828807
This variant is located in the EFTUD2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neuroimaging measurement
Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.08
p 7.0e-12
N 20,859
Major Consortium StudyLarge GWAS
European
pulse pressure measurement
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 A
OR 0.13
p 1.0e-11
N 1,028,980
Large GWAS
multi-ancestry
white matter microstructure measurement
Ou YN et al. “The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders.” Translational Psychiatry 13(1):180 (2023)
Allele A
OR —
p 2.0e-10
N 30,832
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout EFTUD2
This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
View all EFTUD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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