rs200489612

This is a intron variant variant in the DLG4 gene.

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GWAS Catalog Trait Associations (104)

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

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.13
p 1.0e-300
N 437,438
Large GWAS
European

cholesteryl ester measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.57
p 6.0e-167
N 241,027
Large GWAS
European

concentration of small HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.56
p 3.0e-159
N 241,027
Large GWAS
European

total lipids in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.49
p 9.0e-123
N 241,027
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.32
p 9.0e-18
N 136,016
Large GWAS
multi-ancestry

phospholipids in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.43
p 9.0e-96
N 241,027
Large GWAS
European

insulin-like growth factor 1 receptor level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.70
p 3.0e-85
N 47,745
Large GWAS
European

sialic acid-binding Ig-like lectin 10 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.75
p 3.0e-83
N 47,745
Large GWAS
European

interferon gamma receptor 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.76
p 1.0e-77
N 47,745
Large GWAS
European

progranulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.56
p 2.0e-63
N 47,745
Large GWAS
European

About DLG4

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all DLG4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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