rs56398830

This is a variant in the SLC10A2 gene that changes a proline to an serine.

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GWAS Catalog Trait Associations (8)

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

cell surface A33 antigen measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.75
p 6.0e-212
N 47,745
Large GWAS
European

epithelial cell adhesion molecule measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.68
p 3.0e-194
N 47,745
Large GWAS
European
Enroth S et al. “Strong effects of genetic and lifestyle factors on biomarker variation and use of personalized cutoffs.” Nature Communications 5:4684 (2014)
Allele A
OR 0.94
p 1.0e-15
N 970
Small GWAS

level of organic solute transporter subunit beta in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.54
p 3.0e-101
N 47,745
Large GWAS
European

level of protein S100-A14 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.49
p 4.0e-85
N 47,745
Large GWAS
European

level of tetraspanin-8 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.37
p 4.0e-68
N 47,745
Large GWAS
European

coxsackievirus and adenovirus receptor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.36
p 3.0e-53
N 47,745
Large GWAS
European

level of protein S100-A16 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.28
p 1.0e-22
N 47,745
Large GWAS
European

glycochenodeoxycholate 3-sulfate 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 0.49
p 4.0e-13
N 8,123
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
1 submitter3 publications

not specified

View on ClinVar →

About SLC10A2

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]

View all SLC10A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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