rs12539707
This is a intron variant variant in the HIBADH gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
nephrolithiasis
Howles SA et al. “Genetic variants of calcium and vitamin D metabolism in kidney stone disease.” Nature Communications 10(1):5175 (2019)
Allele T
OR 1.12
p 1.0e-10
N 429,501
Large GWAS
multi-ancestry
About HIBADH
This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
View all HIBADH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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