rs17300741

Homo sapiens
A>G
SLC22A11 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0431 (12729/29484,GnomAD)
G=0437 (12725/29118,TOPMED)
G=0327 (1636/5008,1000G)
A==0469 (1806/3854,ALSPAC)
A==0448 (1663/3708,TWINSUK)
chr11:64563990 (GRCh38.p7) (11q13.1)
AD
GWASdb2
17   publication(s)
See rs on genome
125 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.64563990A>G
GRCh37.p13 chr 11NC_000011.9:g.64331462A>G

Gene: SLC22A11, solute carrier family 22 member 11(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC22A11 transcript variant 2NM_001307985.1:c.N/AIntron Variant
SLC22A11 transcript variant 1NM_018484.3:c.N/AIntron Variant
SLC22A11 transcript variant X1XM_011545167.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.636G=0.364
1000GenomesAmericanSub694A=0.700G=0.300
1000GenomesEast AsianSub1008A=0.934G=0.066
1000GenomesEuropeSub1006A=0.462G=0.538
1000GenomesGlobalStudy-wide5008A=0.673G=0.327
1000GenomesSouth AsianSub978A=0.650G=0.350
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.469G=0.531
The Genome Aggregation DatabaseAfricanSub8614A=0.632G=0.368
The Genome Aggregation DatabaseAmericanSub834A=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1618A=0.939G=0.061
The Genome Aggregation DatabaseEuropeSub18116A=0.500G=0.499
The Genome Aggregation DatabaseGlobalStudy-wide29484A=0.568G=0.431
The Genome Aggregation DatabaseOtherSub302A=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.563G=0.437
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.448G=0.552
PMID Title Author Journal
24637121Serum uric acid and risk of dementia in Parkinson's disease.Gonzalez-Aramburu IParkinsonism Relat Disord
24025986A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout.Sakiyama MDrug Metab Pharmacokinet
19861489Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.van der Harst PHum Mol Genet
26290326Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.Zhou ZWBMC Med Genet
23712608Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.Gonzalez-Aramburu IMov Disord
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27048905SHEsisPlus, a toolset for genetic studies on polyploid species.Shen JSci Rep
22229870Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.Karns RAnn Hum Genet
19503597Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.Kolz MPLoS Genet
21118897Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.Kenny EEHum Mol Genet
21768215Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.Tin AHum Mol Genet
24513273A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.Yang BBMC Med Genomics
19890391Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.Stark KPLoS One
25617895Common variants related to serum uric acid concentrations are associated with glucose metabolism and insulin secretion in a Chinese population.Sun XPLoS One
25283508Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population.Sun XActa Pharmacol Sin
27274832Analysis of ABCG2 and other urate transporters in uric acid homeostasis in chronic kidney disease: potential role of remote sensing and signaling.Bhatnagar VClin Kidney J
26446360Mendelian randomization studies of biomarkers and type 2 diabetes.Abbasi AEndocr Connect

P-Value

SNP ID p-value Traits Study
rs173007410.000469alcohol dependence20201924

eQTL of rs17300741 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs17300741 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr116432068964323631E067-7831
chr116434783664347886E06716374
chr116434802364348271E06716561
chr116434829164348378E06716829
chr116437596464376428E06744502
chr116437647164376515E06745009
chr116437656864376716E06745106
chr116437842264378472E06746960
chr116437847964378529E06747017
chr116437854664378619E06747084
chr116437867464378727E06747212
chr116437883864378888E06747376
chr116437920164379284E06747739
chr116437934864379790E06747886
chr116438078364380897E06749321
chr116428994464290017E068-41445
chr116429014164290273E068-41189
chr116429033264290382E068-41080
chr116429341064293511E068-37951
chr116432068964323631E068-7831
chr116433346164335009E0681999
chr116434783664347886E06816374
chr116437842264378472E06846960
chr116437847964378529E06847017
chr116437854664378619E06847084
chr116437867464378727E06847212
chr116437883864378888E06847376
chr116437920164379284E06847739
chr116437934864379790E06847886
chr116430677164306853E069-24609
chr116430691464306964E069-24498
chr116430700764307078E069-24384
chr116430717764307936E069-23526
chr116430794564308131E069-23331
chr116432068964323631E069-7831
chr116433346164335009E0691999
chr116434783664347886E06916374
chr116434802364348271E06916561
chr116437596464376428E06944502
chr116437647164376515E06945009
chr116437656864376716E06945106
chr116438078364380897E06949321
chr116432068964323631E070-7831
chr116433346164335009E0701999
chr116434783664347886E07016374
chr116434802364348271E07016561
chr116434829164348378E07016829
chr116434845464348753E07016992
chr116437224364372293E07040781
chr116437238264372480E07040920
chr116437250364372560E07041041
chr116437261164373076E07041149
chr116437311464373289E07041652
chr116437332664373575E07041864
chr116437477864374844E07043316
chr116437504164375159E07043579
chr116437519564375272E07043733
chr116437596464376428E07044502
chr116437647164376515E07045009
chr116437656864376716E07045106
chr116437695164377166E07045489
chr116430519964305249E071-26213
chr116430677164306853E071-24609
chr116430691464306964E071-24498
chr116430700764307078E071-24384
chr116432068964323631E071-7831
chr116434783664347886E07116374
chr116434802364348271E07116561
chr116434829164348378E07116829
chr116430677164306853E072-24609
chr116432068964323631E072-7831
chr116433346164335009E0721999
chr116434783664347886E07216374
chr116434802364348271E07216561
chr116434829164348378E07216829
chr116437532364375920E07243861
chr116437596464376428E07244502
chr116437647164376515E07245009
chr116437656864376716E07245106
chr116437695164377166E07245489
chr116437920164379284E07247739
chr116437934864379790E07247886
chr116430677164306853E073-24609
chr116430691464306964E073-24498
chr116432068964323631E073-7831
chr116432722464328017E073-3445
chr116432801864328121E073-3341
chr116432813764328257E073-3205
chr116434783664347886E07316374
chr116434802364348271E07316561
chr116434829164348378E07316829
chr116434845464348753E07316992
chr116437311464373289E07341652
chr116437532364375920E07343861
chr116437596464376428E07344502
chr116437920164379284E07347739
chr116437934864379790E07347886
chr116438078364380897E07349321
chr116432068964323631E074-7831
chr116434783664347886E07416374
chr116434802364348271E07416561
chr116434829164348378E07416829
chr116437596464376428E07444502
chr116437647164376515E07445009
chr116437656864376716E07445106
chr116430677164306853E081-24609
chr116430691464306964E081-24498
chr116430700764307078E081-24384
chr116430717764307936E081-23526
chr116430794564308131E081-23331
chr116432068964323631E081-7831
chr116437504164375159E08143579
chr116437519564375272E08143733
chr116437532364375920E08143861
chr116437596464376428E08144502
chr116437647164376515E08145009
chr116437656864376716E08145106
chr116429929264299383E082-32079
chr116430677164306853E082-24609
chr116430691464306964E082-24498
chr116430700764307078E082-24384
chr116430717764307936E082-23526
chr116437596464376428E08244502
chr116437647164376515E08245009
chr116437656864376716E08245106