Human SNP ID | rs9291768 |
---|---|
Human chromosome | chr5 |
Human SNP position | 51421959 |
Pig chromosome | chr16 |
Pig SNP position | 32607650 |
PubMed ID | 25763902 |
---|---|
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25763902 |
Study | Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy. |
Disease/Trait | Classic bladder exstrophy |
Initial sample | 208 European ancestry cases, 1,703 European ancestry controls |
Replication sample | NA |
Region | 5q11.2 |
Chromosome id | chr5 |
Chromosome position | 51421959 |
Reported gene | ISL1, LOC642366 |
Mapped gene | ISL1 - LOC105379196 |
Upstream gene id | 3670 |
Downstream gene id | 105379196 |
SNP gene ids | |
Upstream gene distance | 27221 |
Downstream gene distance | 6037 |
SNP risk allele | rs9291768-T |
SNPs | rs9291768 |
Merged | 0 |
SNP id current | 9291768 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.377 |
P value | 0.000000000002 |
Pvalue mlog | 11.698970004336 |
P value text | |
Or beta | 2.18 |
%95 Ci | [1.75-2.71] |
Platform | Illumina [7261187] (imputed) |
CNV | N |
Mapped trait | Bladder exstrophy |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_93930 |
Study accession | GCST002807 |