SNP Detail For rs17319721
1.Mapping Information
Human SNP ID rs17319721
Human chromosome chr4
Human SNP position 76447694
Pig chromosome chr8
Pig SNP position 76312464
2.Annotation Information
PubMed ID19430482
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19430482
StudyMultiple loci associated with indices of renal function and chronic kidney disease.
Disease/TraitRenal function and chronic kidney disease
Initial sample2,388 European ancestry cases, 17,489 European ancestry controls
Replication sample1,932 cases, 19,534 controls
Region4q21.1
Chromosome idchr4
Chromosome position76447694
Reported geneSHROOM3
Mapped geneSHROOM3
Upstream gene id
Downstream gene id
SNP gene ids57619
Upstream gene distance
Downstream gene distance
SNP risk allelers17319721-A
SNPsrs17319721
Merged0
SNP id current17319721
Contextintron_variant
Intergenic0
Allele frequency0.44
P value0.000000000001
Pvalue mlog12
P value text(eGFRcrea)
Or beta0.01
%95 Ci[0.008-0.016] ml/min/1.73m2 decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitrenal system measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004742
Study accessionGCST000397
PubMed ID20383146
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20383146
StudyNew loci associated with kidney function and chronic kidney disease.
Disease/TraitChronic kidney disease
Initial sampleUp to 67,093 European ancestry individuals
Replication sampleUp to 22,982 European ancestry individuals
Region4q21.1
Chromosome idchr4
Chromosome position76447694
Reported geneCCDC158, SHROOM3
Mapped geneSHROOM3
Upstream gene id
Downstream gene id
SNP gene ids57619
Upstream gene distance
Downstream gene distance
SNP risk allelers17319721-A
SNPsrs17319721
Merged0
SNP id current17319721
Contextintron_variant
Intergenic0
Allele frequency0.43
P value1E-19
Pvalue mlog19
P value text(eGFRcrea)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitchronic kidney disease, serum creatinine measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003884, http://www.ebi.ac.uk/efo/EFO_0004518
Study accessionGCST000649