rs1170174

This is a intron variant variant in the DGKH 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

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 1.16

p 5.0e-11

N 395,044

Large GWAS

European

About DGKH

This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

View all DGKH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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