Human SNP ID | rs10500355 |
---|---|
Human chromosome | chr16 |
Human SNP position | 7409346 |
Pig chromosome | chr3 |
Pig SNP position | 36179630 |
PubMed ID | 23474815 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23474815 |
Study | Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. |
Disease/Trait | Refractive error |
Initial sample | 6,597 European ancestry and Erasmus Rucphen individuals, 683 Sardinian inidividuals |
Replication sample | 19,763 European ancestry individuals |
Region | 16p13.3 |
Chromosome id | chr16 |
Chromosome position | 7409346 |
Reported gene | RBFOX1 |
Mapped gene | RBFOX1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 54715 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10500355-? |
SNPs | rs10500355 |
Merged | 0 |
SNP id current | 10500355 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.3721 |
P value | 0.000000004 |
Pvalue mlog | 8.39794000867203 |
P value text | |
Or beta | 0.111 |
%95 Ci | [0.074-0.147] unit decrease |
Platform | Affymetrix, Illumina [2093862] (imputed) |
CNV | N |
Mapped trait | Abnormality of refraction |
Mapped trait URI | http://purl.obolibrary.org/obo/HP_0000539 |
Study accession | GCST001898 |