rs211718

This is a downstream gene variant variant in the SLC44A5 gene.

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GWAS Catalog Trait Associations (1)

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

metabolite measurement

Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele C
OR 0.16
p 2.0e-71
N 2,820
Large GWAS
European
Illig T et al. “A genome-wide perspective of genetic variation in human metabolism.” Nature Genetics 42(2):137-41 (2010)
Allele C
OR 0.12
p 1.0e-63
N 1,029
Large GWAS
European
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Research that mentions this SNP (1)

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A Genome-Wide Assessment of Variability in Human Serum Metabolism
AssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation

A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.

Traits studied:BilirubinButyrylcarnitineCaprolactamDimethylheptanoylcarnitineGlycerolphosphocholineGlycochenodeoxycholic acidHexanoylcarnitineSerum metabolitesStearoylcarnitine
PubMedDOIMetascience Observatory

About SLC44A5

Enables choline transmembrane transporter activity. Involved in choline transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC44A5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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