Human SNP ID | rs4236601 |
---|---|
Human chromosome | chr7 |
Human SNP position | 116522675 |
Pig chromosome | chr18 |
Pig SNP position | 31782131 |
PubMed ID | 20835238 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20835238 |
Study | Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. |
Disease/Trait | Glaucoma (primary open-angle) |
Initial sample | 1,263 European ancestry cases, 34,887 European ancestry controls |
Replication sample | 2,175 European ancestry cases, 2,064 European ancestry controls |
Region | 7q31.2 |
Chromosome id | chr7 |
Chromosome position | 116522675 |
Reported gene | CAV1, CAV2 |
Mapped gene | CAV2 - CAV1 |
Upstream gene id | 858 |
Downstream gene id | 857 |
SNP gene ids | |
Upstream gene distance | 14134 |
Downstream gene distance | 2110 |
SNP risk allele | rs4236601-A |
SNPs | rs4236601 |
Merged | 0 |
SNP id current | 4236601 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | 0.23 |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | |
Or beta | 1.27 |
%95 Ci | [1.18-1.36] |
Platform | Illumina [303117] |
CNV | N |
Mapped trait | open-angle glaucoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004190 |
Study accession | GCST000793 |
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 | 7q31.2 |
Chromosome id | chr7 |
Chromosome position | 116522675 |
Reported gene | CAV1, CAV2 |
Mapped gene | CAV2 - CAV1 |
Upstream gene id | 858 |
Downstream gene id | 857 |
SNP gene ids | |
Upstream gene distance | 14134 |
Downstream gene distance | 2110 |
SNP risk allele | rs4236601-A |
SNPs | rs4236601 |
Merged | 0 |
SNP id current | 4236601 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.0000005 |
Pvalue mlog | 6.30102999566398 |
P value text | |
Or beta | 1.2 |
%95 Ci | [1.12-1.28] |
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 |