rs6478241

This variant is located in the ASTN2 gene.

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GWAS Catalog Trait Associations (8)

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

hippocampal CA3 volume

Liu N et al. “Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes.” Nature Genetics 55(7):1126-1137 (2023)
Allele G
OR 0.06
p 2.0e-15
N 38,977
Large GWAS
European, East Asian

amygdala volume

Ji Y et al. “Cross-ancestry and sex-stratified genome-wide association analyses of amygdala and subnucleus volumes.” Nature Genetics 57(4):839-850 (2025)
Allele G
OR 0.04
p 5.0e-13
N 42,397
Large GWAS
multi-ancestry

migraine disorder

Gormley P et al. “Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.” Nature Genetics 48(8):856-66 (2016)
Allele A
OR 1.05
p 1.0e-12
N 375,752
Meta-analysisLarge GWAS
European
Anttila V et al. “Genome-wide meta-analysis identifies new susceptibility loci for migraine.” Nature Genetics 45(8):912-917 (2013)
Allele A
OR 1.16
p 1.0e-9
N 19,147
Meta-analysisLarge GWAS
European
Freilinger T et al. “Genome-wide association analysis identifies susceptibility loci for migraine without aura.” Nature Genetics 44(7):777-82 (2012)
Allele A
OR 1.16
p 4.0e-8
N 6,906
Large GWAS
European

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele G
OR 0.07
p 5.0e-11
N 21,282
Major Consortium StudyLarge GWAS
European

granule cell layer dentate gyrus volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele A
OR 3.80
p 1.0e-10
N 21,297
Large GWAS
European

migraine without aura, susceptibility to, 4

Gormley P et al. “Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.” Nature Genetics 48(8):856-66 (2016)
Allele A
OR 1.14
p 1.0e-10
N 147,970
Meta-analysisLarge GWAS
European

hippocampal CA4 volume

van der Meer D et al. “Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes.” Molecular Psychiatry 25(11):3053-3065 (2020)
Allele A
OR 3.18
p 4.0e-10
N 21,297
Large GWAS
European

multisite chronic pain

Johnston KJA et al. “Genome-wide association study of multisite chronic pain in UK Biobank.” Plos Genetics 15(6):e1008164 (2019)
Allele A
OR 0.01
p 3.0e-9
N 387,649
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Using a Genetic Risk Score Approach to Predict Headache Response to Triptans in Migraine Without Aura
AssociationN=172Sarah Cargnin et al.(2019)· The Journal of Clinical Pharmacology

A genetic risk score combining risk alleles at TRPM8 rs6724624 and FGF6 rs1024905 was inversely associated with inconsistent response to triptans in 172 migraine without aura (MwoA) patients (OR 0.62, 95% CI 0.43-0.89, FDR q=0.045). Adding this 2-SNP genetic risk score to a triptan-adjusted model significantly improved discrimination accuracy from AUC 0.57 to 0.64 (P=0.037), suggesting potential utility for predicting poor triptan responders.

Traits studied:Migraine without auraTriptan response
PubMedDOIMetascience Observatory

About ASTN2

This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

View all ASTN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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