rs8018720

This is a variant in the SEC23A gene that changes a leucine to an isoleucine.

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GWAS Catalog Trait Associations (2)

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

vitamin D level

Revez JA et al. “Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.” Nature Communications 11(1):1647 (2020)
Allele G
OR 0.04
p 2.0e-49
N 417,580
Large GWAS
European
Manousaki D et al. “Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.” American Journal of Human Genetics 106(3):327-337 (2020)
Allele G
OR 0.03
p 4.0e-36
N 443,734
Large GWAS
European
Wang X et al. “Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D.” Plos Genetics 19(11):e1011033 (2023)
Allele G
OR 0.03
p 2.0e-38
N 409,654
Large GWAS
European
Jiang X et al. “Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.” Nature Communications 9(1):260 (2018)
Allele G
OR 0.02
p 1.0e-11
N 79,366
Large GWAS
multi-ancestry

level of liver carboxylesterase 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 5.0e-16
N 47,745
Large GWAS
European
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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter2 publications

Craniolenticulosutural dysplasia (CLSD)

View on ClinVar →
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Research that mentions this SNP (1)

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A mendelian randomization study on causal effects of 25(OH)vitamin D levels on attention deficit/hyperactivity disorder
Meta-analysisN=133,650Lars Libuda et al.(2021)· European Journal of Nutrition

A bidirectional two-sample Mendelian randomization study examining the causal relationship between 25-hydroxyvitamin D levels and attention-deficit/hyperactivity disorder (ADHD). Using 79,366 European individuals for vitamin D GWAS data and 19,099 ADHD cases with 34,194 controls, the study found no evidence of a causal effect of vitamin D on ADHD (IVW β = -0.043, p = 0.833) or reverse causality. Although rs12785878 showed a nominal association with increased ADHD risk at higher vitamin D levels (p = 0.024), this did not survive multiple testing correction.

Traits studied:Attention-deficit/hyperactivity disorder (ADHD)Vitamin D levels (25-hydroxyvitamin D)
PubMedDOIMetascience Observatory

About SEC23A

The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]

View all SEC23A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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