rs2239908

This variant is located in the SLC46A1 gene.

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GWAS Catalog Trait Associations (8)

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

semaphorin-3A measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.62
p 9.0e-48
N 997
Small GWAS
multi-ancestry

calcium/calmodulin-dependent protein kinase type 1D measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.45
p 3.0e-24
N 997
Small GWAS
multi-ancestry

interleukin 5 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.43
p 5.0e-24
N 997
Small GWAS
multi-ancestry

level of t-SNARE domain-containing protein 1 in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 0.48
p 1.0e-14
N 466
Small GWAS
African American or Afro-Caribbean

WNT1-inducible-signaling pathway protein 1 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.29
p 1.0e-10
N 997
Small GWAS
multi-ancestry

UMP-CMP kinase measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.27
p 8.0e-10
N 997
Small GWAS
multi-ancestry

serine protease 27 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.26
p 2.0e-9
N 997
Small GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Congenital defect of folate absorption; not provided

View on ClinVar →

About SLC46A1

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]

View all SLC46A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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