rs2902548

This variant is located in the SFXN2 gene.

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GWAS Catalog Trait Associations (4)

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

dimethylglycine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.14
p 1.0e-22
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele T
OR 0.13
p 7.0e-11
N 8,809
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.17
p 1.0e-14
N 6,136
Large GWAS
European

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.03
p 4.0e-14
N 119,629
Large GWAS
East Asian

carotid plaque build

Pott J et al. “Genome-wide meta-analysis identifies novel loci of plaque burden in carotid artery.” Atherosclerosis 259:32-40 (2017)
Allele T
OR 0.14
p 2.0e-8
N 7,189
Meta-analysis
European
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Research that mentions this SNP (1)

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A Comprehensive Family-Based Replication Study of Schizophrenia Genes
AssociationN=28,251Karolina A. Aberg et al.(2013)· JAMA Psychiatry

This comprehensive family-based replication study tested 8,107 SNPs in 6,298 individuals (3,286 schizophrenia cases) from 1,811 nuclear families, following a meta-analysis of 18 schizophrenia GWAS studies. The study replicated major findings in TCF4 (P=2.53×10⁻¹⁰) and NOTCH4 (P=3.16×10⁻⁷), and identified novel susceptibility loci including POM121L2 (P=3.51×10⁻⁷), AS3MT (P=9.01×10⁻⁷), CNNM2 (P=6.07×10⁻⁷), and NT5C2 (P=4.09×10⁻⁷). Pathway analyses revealed significant enrichment in neuronal function (axonal guidance, neuronal systems, L1 cell adhesion) and immune system pathways (antigen processing, T-cell adhesion molecules).

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory

About SFXN2

Predicted to enable transmembrane transporter activity. Involved in mitochondrial transmembrane transport. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SFXN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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