Human SNP ID | rs10993625 |
---|---|
Human chromosome | chr9 |
Human SNP position | 90679923 |
Pig chromosome | chr7 |
Pig SNP position | 41586709 |
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 | 9q22.2 |
Chromosome id | chr9 |
Chromosome position | 90679923 |
Reported gene | NR |
Mapped gene | DIRAS2 - SYK |
Upstream gene id | 54769 |
Downstream gene id | 6850 |
SNP gene ids | |
Upstream gene distance | 36818 |
Downstream gene distance | 121757 |
SNP risk allele | rs10993625-C |
SNPs | rs10993625 |
Merged | 0 |
SNP id current | 10993625 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.149 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 1.97 |
%95 Ci | [1.48-2.63] |
Platform | Illumina [7261187] (imputed) |
CNV | N |
Mapped trait | Bladder exstrophy |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_93930 |
Study accession | GCST002807 |