rs17279437
This is a variant in the SLC6A20 gene that changes a threonine to an methionine.
▶GWAS Catalog Trait Associations (21)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (21)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pyroglutamine measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.36
p 4.0e-106
N 14,296
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 A
OR 0.27
p 6.0e-18
N 9,014
Large GWAS
multi-ancestry
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.25
p 3.0e-32
N 8,809
Large GWAS
European
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.06
p 1.0e-20
N 7,800
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.27
p 3.0e-20
N 6,136
Large GWAS
European
cerebrospinal fluid composition attribute
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele A
OR 0.07
p 8.0e-81
N 2,602
Large GWAS
European
cerebrospinal fluid composition attribute, proline level
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele A
OR 0.14
p 8.0e-62
N 2,602
Large GWAS
European
urinary metabolite measurement
Raffler J et al. “Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality.” Plos Genetics 11(9):e1005487 (2015)
Allele A
OR 0.28
p 8.0e-60
N 3,861
Large GWAS
European
retinal layer thickness
Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele A
OR 0.73
p 1.0e-52
N 43,148
Large GWAS
multi-ancestry
Currant H et al. “Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.” Plos Genetics 17(5):e1009497 (2021)
Allele A
OR 0.77
p 8.0e-24
N 31,434
Major Consortium StudyLarge GWAS
European
trigonelline (N'-methylnicotinate) measurement
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.41
p 6.0e-44
N 6,136
Large GWAS
European
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.16
p 1.0e-22
N 14,296
Large GWAS
European
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.20
p 2.0e-16
N 8,809
Large GWAS
European
metabolite measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.23
p 8.0e-40
N 14,296
Large GWAS
European
Suhre K et al. “A genome-wide association study of metabolic traits in human urine.” Nature Genetics 43(6):565-9 (2011)
Allele A
OR —
p 3.0e-19
N 862
Small GWAS
European
Panyard DJ et al. “Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations.” Communications Biology 4(1):63 (2021)
Allele A
OR 0.11
p 5.0e-15
N 291
Small GWAS
European
X-23780 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 A
OR 0.33
p 3.0e-37
N 7,878
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.36
p 2.0e-26
N 6,136
Large GWAS
European
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 A
OR 0.28
p 2.0e-14
N 4,880
Large GWAS
European
X-11315-to-pyroglutamine ratio
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.094
p 2.0e-35
N 5,560
Large GWAS
European
dimethylglycine measurement
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 A
OR 0.39
p 1.0e-30
N 4,912
Large GWAS
European
▶ClinVar annotation
About SLC6A20
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
View all SLC6A20 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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