rs3820201

This is a coding sequence variant variant in the SLC1A7 gene.

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GWAS Catalog Trait Associations (4)

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 0.02
p 1.0e-25
N 455,180
Large GWAS
Hispanic or Latin American

thiosulfate sulfurtransferase measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.230
p 5.0e-18
N 3,301
Large GWAS
European

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele A
OR 0.00
p 4.0e-10
N 1,201,930
Large GWAS
multi-ancestry
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele A
OR 5.88
p 4.0e-9
N 1,508,659
Large GWAS
multi-ancestry

serum creatinine amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 4.0e-10
N 494,370
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Multiple loci influencing hippocampal degeneration identified by genome scan
AssociationN=2,592Scott A. Melville et al.(2012)· Annals of Neurology

A two-stage genome-wide association study identified loci influencing hippocampal volume (HV), total cerebral volume (TCV), and white matter hyperintensities (WMH) in Alzheimer disease-related endophenotypes. Novel genome-wide significant associations (p<5.0×10⁻⁸) were found for HV with SNPs in APOE (p=5.23×10⁻³¹), F5/SELP (p=5.53×10⁻⁹), LHFP, and GCFC2 gene regions in Caucasian discovery cohorts, with replication support in African Americans. Significant associations with different SNPs in the same gene were observed for PICALM (p<1×10⁻⁵ in Caucasians) with HV, SYNPR with TCV, and TTC27 with WMH.

Traits studied:Alzheimer diseaseHippocampal volumeTotal cerebral volumeWhite matter hyperintensities
PubMedDOIMetascience Observatory

About SLC1A7

Enables glutamate:sodium symporter activity. Involved in neurotransmitter uptake. Predicted to be located in photoreceptor cell terminal bouton. Predicted to be active in glutamatergic synapse; postsynaptic membrane; and presynaptic membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC1A7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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