rs180870
This is a synonymous variant in the DGKH gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (1)
▶Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese populationAssociationN=1,012Yong Xu et al.(2014)· Urolithiasis
Case-control study of 507 calcium oxalate stone patients and 505 controls in a Chinese population examining DGKH gene polymorphisms. rs4142110 was significantly associated with reduced calcium oxalate stone risk (T allele OR=0.749, P=0.001), and rs180870 showed significant association with stone disease (P=0.042). Both variants also associated with hypercalciuria, a key risk factor for kidney stones.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…