rs28364172
This is a stop gained variant in the SLC13A1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
sulfate 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 1.31
p 7.0e-51
N 14,296
Large GWAS
European
Back pain
Bjornsdottir G et al. “Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.” Nature Communications 13(1):634 (2022)
Allele A
OR 1.41
p 3.0e-8
N 981,812
Large GWAS
European
About SLC13A1
The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
View all SLC13A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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