rs34039488
This is a intron variant variant in the SEZ6 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.
gout
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 1.05
p 5.0e-10
N 1,011,521
Large GWAS
European
cigarettes per day measurement
Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele A
OR 0.02
p 6.0e-10
N 403,928
Large GWAS
European
brain physiology trait, language measurement
Mekki Y et al. “The genetic architecture of language functional connectivity.” Neuroimage 249:118795 (2022)
Allele G
OR 5.46
p 5.0e-8
N 32,186
Large GWAS
European
About SEZ6
The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
View all SEZ6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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