rs729654
This variant is located in the POMGNT2 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.
blood protein amount
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele C
OR 0.27
p 4.0e-30
N 3,200
Large GWAS
European
protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 measurement
Allele T
OR —
β 0.260
p 9.0e-27
N 3,301
Large GWAS
European
protein measurement
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.20
p 2.0e-16
N 3,506
Large GWAS
European
About POMGNT2
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
View all POMGNT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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