Human SNP ID | rs7588567 |
---|---|
Human chromosome | chr2 |
Human SNP position | 133605461 |
Pig chromosome | chr15 |
Pig SNP position | 21074098 |
PubMed ID | 22419738 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22419738 |
Study | A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. |
Disease/Trait | Glaucoma (primary open-angle) |
Initial sample | 1,394 Japanese ancestry cases, 6,599 Japanese ancestry controls |
Replication sample | 1,802 Japanese ancestry cases, 7,212 Japanese ancestry controls |
Region | 2q21.2 |
Chromosome id | chr2 |
Chromosome position | 133605461 |
Reported gene | NCKAP5 |
Mapped gene | NCKAP5 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 344148 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7588567-G |
SNPs | rs7588567 |
Merged | 0 |
SNP id current | 7588567 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.586 |
P value | 0.0000004 |
Pvalue mlog | 6.39794000867203 |
P value text | |
Or beta | 1.18 |
%95 Ci | [1.10-1.25] |
Platform | Illumina [602216] |
CNV | N |
Mapped trait | open-angle glaucoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004190 |
Study accession | GCST001451 |