rs12878807

This is a intron variant variant in the GPHN gene.

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GWAS Catalog Trait Associations (11)

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

1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.44
p 2.0e-130
N 6,136
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 A
OR 0.32
p 5.0e-103
N 8,809
Large GWAS
European

1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.23
p 6.0e-35
N 6,136
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 A
OR 0.15
p 6.0e-23
N 8,809
Large GWAS
European

level of Phosphatidylcholine (O-16:1_20:4) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele A
OR 0.22
p 1.0e-13
N 2,624
Large GWAS
European

basophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.01
p 1.0e-9
N 408,112
Large GWAS
European

About GPHN

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

View all GPHN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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