rs17002988
This is a intron variant variant in the FRAS1 gene.
▶Research that mentions this SNP (1)
▶A genome wide association study of plasma uric acid levels in obese cases and never‐overweight controlsAssociationN=961Li WD et al.(2013)· Obesity
A genome-wide association study of 961 individuals (520 obese cases BMI>35, 440 normal-weight controls BMI<25) identified two loci reaching genome-wide significance for plasma uric acid levels: SLC2A9 (rs6449213, P=3.15×10⁻¹²) and DIP2C (rs877282, P=4.56×10⁻⁸). Five additional genes (F5, PXDNL, FRAS1, LCORL, MICAL2) showed weaker associations (P<1×10⁻⁵), and three previously identified uric acid genes (ABCG2, SLC17A1, RREB1) received marginal support.
About FRAS1
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
View all FRAS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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