rs2280205
This variant is located in the SLC2A9 gene.
▶ClinVar annotation
Hypouricemia, renal, 2; not provided; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amishAssociationN=868Patrick F. McArdle et al.(2008)· Arthritis & Rheumatism
A genome-wide association study of 868 Old Order Amish identified the Val253Ile variant (rs16890979) in GLUT9 as a determinant of serum uric acid levels (p = 1.43×10⁻¹¹, β = -0.47 mg/dL per minor allele). The variant explains 33% of uric acid variation and was validated to be associated with gout in the Framingham Heart Study (p = 0.004), suggesting GLUT9's role in uric acid homeostasis.
About SLC2A9
This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
View all SLC2A9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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