Human SNP ID | rs73077895 |
---|---|
Human chromosome | chr7 |
Human SNP position | 28780225 |
Pig chromosome | chr18 |
Pig SNP position | 48289805 |
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 | 7p15.1 |
Chromosome id | chr7 |
Chromosome position | 28780225 |
Reported gene | NR |
Mapped gene | CREB5 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 9586 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs73077895-A |
SNPs | rs73077895 |
Merged | 0 |
SNP id current | 73077895 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.016 |
P value | 0.000007 |
Pvalue mlog | 5.15490195998574 |
P value text | |
Or beta | 5.35 |
%95 Ci | [2.58-11.11] |
Platform | Illumina [7261187] (imputed) |
CNV | N |
Mapped trait | Bladder exstrophy |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_93930 |
Study accession | GCST002807 |