rs1077989

This is a intron variant variant in the GPHN gene.

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GWAS Catalog Trait Associations (16)

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

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.36
p 1.0e-125
N 8,266
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.42
p 7.0e-117
N 6,184
Large GWAS
multi-ancestry

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

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.33
p 3.0e-113
N 8,083
Large GWAS
European
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.37
p 1.0e-90
N 6,166
Large GWAS
multi-ancestry

level of 1-(1Z)-hexadecenyl-2-arachidonoyl-sn-glycero-3-phosphocholine in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.22
p 5.0e-39
N 7,435
Large GWAS
multi-ancestry

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

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele C
OR 0.19
p 3.0e-26
N 6,025
Large GWAS
European
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 C
OR 0.17
p 1.0e-11
N 4,642
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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