rs2160387

This variant is located in the SLC1A4 gene.

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GWAS Catalog Trait Associations (8)

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

X-13684 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 0.20
p 7.0e-42
N 8,112
Large GWAS
European

alanine measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.05
p 4.0e-28
N 115,078
Large GWAS
European
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele T
OR 0.04
p 1.0e-27
N 117,944
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.04
p 3.0e-20
N 88,325
Large GWAS
European

2-aminobutyrate 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 0.17
p 1.0e-26
N 8,242
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 0.16
p 4.0e-26
N 9,334
Large GWAS
multi-ancestry
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele C
OR 0.07
p 4.0e-16
N 4,960
Large GWAS
European

gamma-glutamyl-2-aminobutyrate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.14
p 7.0e-18
N 7,776
Large GWAS
multi-ancestry

GABA measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele C
OR 0.23
p 1.0e-14
N 2,466
Large GWAS
multi-ancestry

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele C
OR 0.23
p 1.0e-14
N 2,466
Large GWAS
multi-ancestry

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele T
OR 0.17
p 1.0e-13
N 3,926
Large GWAS
Hispanic or Latin American

About SLC1A4

The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

View all SLC1A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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