Human SNP ID | rs4658101 |
---|---|
Human chromosome | chr1 |
Human SNP position | 91611852 |
Pig chromosome | chr4 |
Pig SNP position | 137008196 |
PubMed ID | 25241763 |
---|---|
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/25241763 |
Study | Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. |
Disease/Trait | Vertical cup-disc ratio |
Initial sample | 18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals |
Replication sample | 2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals |
Region | 1p22.1 |
Chromosome id | chr1 |
Chromosome position | 91611852 |
Reported gene | CDC7, TGFBR3 |
Mapped gene | RPL39P13 - HSP90B3P |
Upstream gene id | 100130802 |
Downstream gene id | 343477 |
SNP gene ids | |
Upstream gene distance | 11348 |
Downstream gene distance | 30666 |
SNP risk allele | rs4658101-A |
SNPs | rs4658101 |
Merged | 0 |
SNP id current | 4658101 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000000000000001 |
Pvalue mlog | 15 |
P value text | |
Or beta | 0.015 |
%95 Ci | [0.011-0.019] unit increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | optic disc size measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004832 |
Study accession | GCST002626 |