rs568912491

This variant is located in the SEZ6 gene.

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GWAS Catalog Trait Associations (1)

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

level of phosphatidylcholine

Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)

Allele C

OR —

p 1.0e-8

N 6,057

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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