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SNP Detail For rs9860250
1.Mapping Information
| Human SNP ID | rs9860250 |
|---|---|
| Human chromosome | chr3 |
| Human SNP position | 100919027 |
| Pig chromosome | chr13 |
| Pig SNP position | 167671946 |
2.Annotation Information
| PubMed ID | 25631615 |
|---|---|
| Journal | Genet Epidemiol |
| Link | www.ncbi.nlm.nih.gov/pubmed/25631615 |
| Study | Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. |
| Disease/Trait | Optic disc area |
| Initial sample | 15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals |
| Replication sample | NA |
| Region | 3q12.2 |
| Chromosome id | chr3 |
| Chromosome position | 100919027 |
| Reported gene | ABI3BP |
| Mapped gene | ABI3BP |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 25890 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs9860250-G |
| SNPs | rs9860250 |
| Merged | 0 |
| SNP id current | 9860250 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.18 |
| P value | 0.000000002 |
| Pvalue mlog | 8.69897000433601 |
| P value text | |
| Or beta | 0.036 |
| %95 Ci | [0.024-0.048] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | optic disc area measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006937 |
| Study accession | GCST002763 |
| PubMed ID | 25631615 |
| Journal | Genet Epidemiol |
| Link | www.ncbi.nlm.nih.gov/pubmed/25631615 |
| Study | Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. |
| Disease/Trait | Optic disc area |
| Initial sample | 15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals, 2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals |
| Replication sample | NA |
| Region | 3q12.2 |
| Chromosome id | chr3 |
| Chromosome position | 100919027 |
| Reported gene | ABI3BP |
| Mapped gene | ABI3BP |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 25890 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs9860250-G |
| SNPs | rs9860250 |
| Merged | 0 |
| SNP id current | 9860250 |
| Context | intron_variant |
| Intergenic | 0 |
| Allele frequency | 0.18 |
| P value | 0.0000005 |
| Pvalue mlog | 6.30102999566398 |
| P value text | (EA) |
| Or beta | 0.033 |
| %95 Ci | [0.019-0.047] unit decrease |
| Platform | Affymetrix, Illumina [2500000] (imputed) |
| CNV | N |
| Mapped trait | optic disc area measurement |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006937 |
| Study accession | GCST002763 |
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