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rs1165205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 1.5 0.85x decreased gout risk
(A;T) 1.4 0.85x decreased gout risk
(T;T) 1 normal
ReferenceGRCh38 38.1/142
Chromosome6
Position25870314
GeneSLC17A3
is asnp
is mentioned by
dbSNPrs1165205
ebirs1165205
HLIrs1165205
Exacrs1165205
Varsomers1165205
Maprs1165205
PheGenIrs1165205
hapmaprs1165205
1000 genomesrs1165205
hgdprs1165205
ensemblrs1165205
gopubmedrs1165205
geneviewrs1165205
scholarrs1165205
googlers1165205
pharmgkbrs1165205
gwascentralrs1165205
openSNPrs1165205
23andMers1165205
23andMe allrs1165205
SNP Nexus

SNPshotrs1165205
SNPdbers1165205
MSV3drs1165205
GWAS Ctlgrs1165205
GMAF0.2824
Max Magnitude1.5
? (A;A) (A;T) (T;T) 28
rs1165205 is a SNP in the SLC17A3 gene on ch 6.

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 0.85 for rs1165205, (CI: 0.77-0.94, p = 0.002). A genetic score comprised of this SNP plus 2 others may stratify risk for gout. [PMID 18834626OA-icon.png]

See also: 23andMe blog gout

OMIM612671
DescURIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL4
Variant
Relatedalso
[PMID 19503597OA-icon.png] Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.


[PMID 19890391OA-icon.png] Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.


[PMID 20053405OA-icon.png] Sex and age interaction with genetic association of atherogenic uric acid concentrations.


[PMID 20470424OA-icon.png] A three-stage approach for genome-wide association studies with family data for quantitative traits.


[PMID 21765209] Serum and cerebrospinal fluid uric acid levels in lewy body disorders: associations with disease occurrence and amyloid-beta pathway.


GET Evidence
rs1165205
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.65625
summary



[PMID 25867401] Polymorphisms of uric transporter proteins in the pathogenesis of gout in a Chinese Han population


[PMID 27511497] Association analysis of five SNP variants with gout in the Minnan population in China.