SNP Detail For rs9291768
1.Mapping Information
Human SNP ID rs9291768
Human chromosome chr5
Human SNP position 51421959
Pig chromosome chr16
Pig SNP position 32607650
2.Annotation Information
PubMed ID25763902
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25763902
StudyGenome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
Disease/TraitClassic bladder exstrophy
Initial sample208 European ancestry cases, 1,703 European ancestry controls
Replication sampleNA
Region5q11.2
Chromosome idchr5
Chromosome position51421959
Reported geneISL1, LOC642366
Mapped geneISL1 - LOC105379196
Upstream gene id3670
Downstream gene id105379196
SNP gene ids
Upstream gene distance27221
Downstream gene distance6037
SNP risk allelers9291768-T
SNPsrs9291768
Merged0
SNP id current9291768
Contextintergenic_variant
Intergenic1
Allele frequency0.377
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta2.18
%95 Ci[1.75-2.71]
PlatformIllumina [7261187] (imputed)
CNVN
Mapped traitBladder exstrophy
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_93930
Study accessionGCST002807