SNP Detail For rs10993625
1.Mapping Information
Human SNP ID rs10993625
Human chromosome chr9
Human SNP position 90679923
Pig chromosome chr7
Pig SNP position 41586709
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
Region9q22.2
Chromosome idchr9
Chromosome position90679923
Reported geneNR
Mapped geneDIRAS2 - SYK
Upstream gene id54769
Downstream gene id6850
SNP gene ids
Upstream gene distance36818
Downstream gene distance121757
SNP risk allelers10993625-C
SNPsrs10993625
Merged0
SNP id current10993625
Contextintergenic_variant
Intergenic1
Allele frequency0.149
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta1.97
%95 Ci[1.48-2.63]
PlatformIllumina [7261187] (imputed)
CNVN
Mapped traitBladder exstrophy
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_93930
Study accessionGCST002807