{{Rsnum
|rsid=16890979
|Gene=SLC2A9
|Chromosome=4
|position=9920543
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2227
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC2A9
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 59.1 | 38.2 | 2.7
| HCB | 98.5 | 1.5 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 29.3 | 53.7 | 17.0
| ASW | 29.8 | 50.9 | 19.3
| CHB | 98.5 | 1.5 | 0.0
| CHD | 92.6 | 7.4 | 0.0
| GIH | 71.3 | 24.8 | 4.0
| LWK | 30.3 | 53.2 | 16.5
| MEX | 44.8 | 41.4 | 13.8
| MKK | 33.3 | 58.3 | 8.3
| TSI | 60.8 | 35.3 | 3.9
| HapMapRevision=28
}}[[rs16890979]] has been found to be associated with [[gout]] in several independent studies. It may be a variation in the [[SLC2A9]] gene, which is more commonly known as GLUT9.

In a study of Old Order [[Amish]], [[rs16890979]] - which is also known as the missense mutation Val253Ile - was found as the most significantly associated SNP during a follow-up study based on a genome wide association study. Each copy of the minor allele, [[rs16890979]](T), was associated with a decrease of 0.47 mg/dl in the uric acid level (CI: 0.31-0.63, p = 1.43 x 10e-11). {{PMID|18759275|OA=1
}} See also: 
[http://blog.23andme.com/2008/10/01/snpwatch-three-new-associations-for-gout-strengthen-genetic-link/ 23andMe blog] [[gout]]

Independently, a large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC). This study calculated an odds ratio of 0.59 per T allele (CI: 0.52-0.68, p=7.0x10e-14). A genetic score comprised of this SNP plus 2 others may stratify risk for [[gout]]. {{PMID|18834626|OA=1
}}

{{PMID|24270849|OA=1
}} [[rs16890979]] was found to be associated with [[gout]] based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.
{{omim
|desc=HYPOURICEMIA, RENAL, 2; RHUC2
|id=612076
|rsnum=16890979
}}
{{PMID Auto
|PMID=19877038
|Title=Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand M&#x101;ori, Pacific Island, and Caucasian case-control sample sets
}}

{{PharmGKB
|RSID=rs16890979
|Name_s=
|Gene_s=SLC2A9
|Feature=
|Evidence=PubMed ID:18834626; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (Initial Sample Size: 11,847 individuals; Replication Sample Size: 14,867 individuals); (Region: 4p16.1; Reported Gene(s): SLC2A9; Risk Allele: rs16890979-T); (p-value= 0).This variant is associated with Serum urate.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740844
}}

{{PMID Auto
|PMID=22189840
|Title=Genotype-based changes in serum uric acid affect blood pressure
|OA=1
}}

{{PMID Auto
|PMID=22229870
|Title=Genome-Wide Association of Serum Uric Acid Concentration: Replication of Sequence Variants in an Island Population of the Adriatic Coast of Croatia
|OA=1
}}

{{PMID Auto
|PMID=17997608
|Title=The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19503597
|Title=Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
|OA=1
}}

{{PMID Auto
|PMID=20470424
|Title=A three-stage approach for genome-wide association studies with family data for quantitative traits.
|OA=1
}}

{{GET Evidence
|gene=SLC2A9
|aa_change=Val282Ile
|aa_change_short=V282I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs16890979
|overall_frequency_n=3089
|overall_frequency_d=10758
|overall_frequency=0.287135
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=36
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.138
|nblosum100=-4
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}