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rs1165196

From SNPedia

Orientationminus
Stabilizedminus
Make rs1165196(C;C)
Make rs1165196(C;T)
Make rs1165196(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position25812922
GeneSLC17A1
is asnp
is mentioned by
dbSNPrs1165196
ebirs1165196
HLIrs1165196
Exacrs1165196
Varsomers1165196
Maprs1165196
PheGenIrs1165196
hapmaprs1165196
1000 genomesrs1165196
hgdprs1165196
ensemblrs1165196
gopubmedrs1165196
geneviewrs1165196
scholarrs1165196
googlers1165196
pharmgkbrs1165196
gwascentralrs1165196
openSNPrs1165196
23andMers1165196
23andMe allrs1165196
SNP Nexus

SNPshotrs1165196
SNPdbers1165196
MSV3drs1165196
GWAS Ctlgrs1165196
GMAF0.2599
Max Magnitude
? (C;C) (C;T) (T;T) 28

[PMID 19556210] Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout

GWAS snp
PMID [PMID 20884846OA-icon.png]
Trait
Title Multiple Genetic Loci Influence Serum Urate And Their Relationship With Gout and Cardiovascular Disease Risk Factors
Risk Allele G
P-val 5E-25
Odds Ratio 6.21 [5.03-7.39] umol/l decrease


[PMID 18834626OA-icon.png] Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.


GET Evidence
SLC17A1-T269I
aa_change Thr269Ile
aa_change_short T269I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.653746
summary



[PMID 22609445] Pathway analysis of genome-wide association studies on uric acid concentrations.


[PMID 25252215] NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout

GWAS snp
PMID [PMID 21983786]
Trait Serum uric acid levels
Title Identification of low-frequency variants associated with gout and serum uric acid levels.
Risk Allele A
P-val 3E-6
Odds Ratio .05 [0.03-0.07] s.d. increase


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


[PMID 25128519] Tubular urate transporter gene polymorphisms differentiate patients with gout who have normal and decreased urinary uric acid excretion