SNP Detail For rs1000597
1.Mapping Information
Human SNP ID rs1000597
Human chromosome chr7
Human SNP position 30897563
Pig chromosome chr18
Pig SNP position 46408571
2.Annotation Information
PubMed ID22396660
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22396660
StudyA genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
Disease/TraitNephrolithiasis
Initial sample904 Japanese ancestry cases, 7,471 Japanese ancestry controls
Replication sample4,892 Japanese ancestry cases, 9,873 Japanese ancestry controls
Region7p14.3
Chromosome idchr7
Chromosome position30897563
Reported geneINMT, FAM188B, AQP1
Mapped geneINMT-FAM188B - AQP1
Upstream gene id100526825
Downstream gene id358
SNP gene ids
Upstream gene distance5176
Downstream gene distance14237
SNP risk allelers1000597-?
SNPsrs1000597
Merged0
SNP id current1000597
Contextintron_variant
Intergenic1
Allele frequencyNR
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta1.22
%95 Ci[1.16-1.29]
PlatformIllumina [556249]
CNVN
Mapped traitnephrolithiasis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004253
Study accessionGCST001432