Human SNP ID | rs2276035 |
---|---|
Human chromosome | chr11 |
Human SNP position | 120475651 |
Pig chromosome | chr9 |
Pig SNP position | 52718279 |
PubMed ID | 25173105 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25173105 |
Study | Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. |
Disease/Trait | Glaucoma (primary open-angle) |
Initial sample | 1,155 European ancestry cases, 1,922 European ancestry controls |
Replication sample | 3,548 European ancestry cases, 9,496 European ancestry controls |
Region | 11q23.3 |
Chromosome id | chr11 |
Chromosome position | 120475651 |
Reported gene | ARHGEF12 |
Mapped gene | ARHGEF12 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23365 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2276035-A |
SNPs | rs2276035 |
Merged | 0 |
SNP id current | 2276035 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.16 |
P value | 0.000008 |
Pvalue mlog | 5.09691001300805 |
P value text | |
Or beta | 1.18 |
%95 Ci | [NR] |
Platform | Illumina [7594768] (imputed) |
CNV | N |
Mapped trait | open-angle glaucoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004190 |
Study accession | GCST002582 |
PubMed ID | 25637523 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25637523 |
Study | ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. |
Disease/Trait | Intraocular pressure |
Initial sample | 8,015 individuals |
Replication sample | 7,471 individuals |
Region | 11q23.3 |
Chromosome id | chr11 |
Chromosome position | 120475651 |
Reported gene | genic |
Mapped gene | ARHGEF12 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 23365 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2276035-A |
SNPs | rs2276035 |
Merged | 0 |
SNP id current | 2276035 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.00000009 |
Pvalue mlog | 7.04575749056067 |
P value text | |
Or beta | 0.24 |
%95 Ci | [0.14-0.34] unit increase |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | intraocular pressure measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004695 |
Study accession | GCST002767 |