rs12777

This is a synonymous variant in the SLC22A4 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (4)

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

tryptophan betaine measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.52
p 6.0e-29
N 8,994
Large GWAS
multi-ancestry

circulating fibrinogen levels

de Vries PS et al. “A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.” Human Molecular Genetics 25(2):358-70 (2016)
Allele G
OR —
β 0.024
p 9.0e-27
N 120,246
Meta-analysisLarge GWAS
European

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 C
OR 0.52
p 5.0e-14
N 3,926
Large GWAS
Hispanic or Latin American

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 G
OR 0.01
p 2.0e-13
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.01
p 9.0e-11
N 765,348
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters3 publications

not provided; not specified

View on ClinVar →

About SLC22A4

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

View all SLC22A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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