Human SNP ID | rs3138144 |
---|---|
Human chromosome | chr12 |
Human SNP position | 55720985 |
Pig chromosome | chr5 |
Pig SNP position | 22647515 |
PubMed ID | 23396134 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23396134 |
Study | Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. |
Disease/Trait | Refractive error |
Initial sample | 37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals |
Replication sample | NA |
Region | 12q13.2 |
Chromosome id | chr12 |
Chromosome position | 55720985 |
Reported gene | RDH5 |
Mapped gene | BLOC1S1-RDH5, RDH5 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 100528022, 5959 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3138144-C |
SNPs | rs3138144 |
Merged | 0 |
SNP id current | 3138144 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.48 |
P value | 0.000000000004 |
Pvalue mlog | 11.397940008672 |
P value text | |
Or beta | 0.119 |
%95 Ci | [0.086-0.152] unit increase |
Platform | Affymetrix, Illumina [2500000] (imputed) |
CNV | N |
Mapped trait | Abnormality of refraction |
Mapped trait URI | http://purl.obolibrary.org/obo/HP_0000539 |
Study accession | GCST001858 |