rs889299

This is a intron variant variant in the SCNN1B gene.

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GWAS Catalog Trait Associations (1)

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

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)

Allele A

OR 0.94

p 1.0e-9

N 975,370

Large GWAS

multi-ancestry

Howles SA et al. “Genetic variants of calcium and vitamin D metabolism in kidney stone disease.” Nature Communications 10(1):5175 (2019)

Allele A

OR 1.09

p 2.0e-8

N 429,501

Large GWAS

multi-ancestry

About SCNN1B

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

View all SCNN1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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