SNP Detail For rs1165196
1.Mapping Information
Human SNP ID rs1165196
Human chromosome chr6
Human SNP position 25812922
Pig chromosome chr7
Pig SNP position 21876288
2.Annotation Information
PubMed ID20884846
JournalCirc Cardiovasc Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20884846
StudyMultiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
Disease/TraitUrate levels
Initial sample28,283 European ancestry individuals
Replication sample22,054 European ancestry individuals
Region6p22.2
Chromosome idchr6
Chromosome position25812922
Reported geneSLC17A1
Mapped geneSLC17A1
Upstream gene id
Downstream gene id
SNP gene ids6568
Upstream gene distance
Downstream gene distance
SNP risk allelers1165196-G
SNPsrs1165196
Merged0
SNP id current1165196
Contextmissense_variant
Intergenic0
Allele frequency0.46
P value5E-25
Pvalue mlog24.3010299956639
P value text(Urate)
Or beta6.21
%95 Ci[5.03-7.39] umol/l decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traiturate measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004531
Study accessionGCST000818
PubMed ID21983786
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21983786
StudyIdentification of low-frequency variants associated with gout and serum uric acid levels.
Disease/TraitSerum uric acid levels
Initial sample15,506 European ancestry individuals
Replication sampleNA
Region6p22.2
Chromosome idchr6
Chromosome position25812922
Reported geneSLC17A cluster
Mapped geneSLC17A1
Upstream gene id
Downstream gene id
SNP gene ids6568
Upstream gene distance
Downstream gene distance
SNP risk allelers1165196-A
SNPsrs1165196
Merged0
SNP id current1165196
Contextmissense_variant
Intergenic0
Allele frequency0.492
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.05
%95 Ci[0.03-0.07] s.d. increase
PlatformIllumina [15957390] (imputed)
CNVN
Mapped traituric acid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004761
Study accessionGCST001269
PubMed ID25811787
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/25811787
StudyModulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans.
Disease/TraitUrate levels in overweight individuals
Initial sampleup to 10,058 European ancestry male individuals, up to 7,189 European ancestry female individuals
Replication sampleNA
Region6p22.2
Chromosome idchr6
Chromosome position25812922
Reported geneSLC17A1, SLC17A4
Mapped geneSLC17A1
Upstream gene id
Downstream gene id
SNP gene ids6568
Upstream gene distance
Downstream gene distance
SNP risk allelers1165196-G
SNPsrs1165196
Merged0
SNP id current1165196
Contextmissense_variant
Intergenic0
Allele frequency0.46
P value0.000000001
Pvalue mlog9
P value text(men)
Or beta0.086
%95 Ci[0.059-0.113] kg/m2 decrease
PlatformAffymetrix, Illumina [at least 188473] (imputed)
CNVN
Mapped traiturate measurement, overweight body mass index status
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004531, http://www.ebi.ac.uk/efo/EFO_0005935
Study accessionGCST002829