rs7111873

This variant is located in the RAPSN gene.

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GWAS Catalog Trait Associations (2)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.03
p 5.0e-29
N 472,730
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 2.0e-25
N 165,056
Large GWAS
East Asian

open-angle glaucoma

Gharahkhani P et al. “Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.” Nature Communications 12(1):1258 (2021)
Allele A
OR —
β 0.074
p 7.0e-21
N 383,500
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
11 submitters2 publications

not specified; Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11; Congenital myasthenic syndrome; Congenital myasthenic syndrome 11;Fetal akinesia deformation sequence 1; Fetal akinesia deformation sequence 2; not provided

View on ClinVar →

About RAPSN

This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

View all RAPSN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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