Human SNP ID | rs2291738 |
---|---|
Human chromosome | chr12 |
Human SNP position | 56421497 |
Pig chromosome | chr5 |
Pig SNP position | 23311647 |
PubMed ID | 24144296 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24144296 |
Study | Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. |
Disease/Trait | Axial length |
Initial sample | 12,531 European ancestry individuals |
Replication sample | 8,216 Asian ancestry individuals |
Region | 12q13.3 |
Chromosome id | chr12 |
Chromosome position | 56421497 |
Reported gene | GLS2, SPRYD4, TIMELESS, PAN2, STAT2, MIP, IL23A, APOF |
Mapped gene | TIMELESS |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8914 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2291738-T |
SNPs | rs2291738 |
Merged | 0 |
SNP id current | 2291738 |
Context | splice_region_variant |
Intergenic | 0 |
Allele frequency | 0.554 |
P value | 0.0000004 |
Pvalue mlog | 6.39794000867203 |
P value text | |
Or beta | 0.0518 |
%95 Ci | [0.032-0.072] unit increase |
Platform | Illumina [2500000] (imputed) |
CNV | N |
Mapped trait | axial length measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005318 |
Study accession | GCST002115 |