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SNP Detail For rs1061170
1.Mapping Information
| Human SNP ID | rs1061170 |
|---|---|
| Human chromosome | chr1 |
| Human SNP position | 196690107 |
| Pig chromosome | chr10 |
| Pig SNP position | 24377486 |
2.Annotation Information
| PubMed ID | 21665990 |
|---|---|
| Journal | Hum Mol Genet |
| Link | www.ncbi.nlm.nih.gov/pubmed/21665990 |
| Study | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. |
| Disease/Trait | Age-related macular degeneration |
| Initial sample | 2,594 European ancestry cases, 4,134 European ancestry controls |
| Replication sample | 5,640 European ancestry cases, 52,174 European ancestry controls |
| Region | 1q31.3 |
| Chromosome id | chr1 |
| Chromosome position | 196690107 |
| Reported gene | CFH |
| Mapped gene | CFH |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3075 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1061170-C |
| SNPs | rs1061170 |
| Merged | 0 |
| SNP id current | 1061170 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.37 |
| P value | 1E-261 |
| Pvalue mlog | 261 |
| P value text | |
| Or beta | 2.41 |
| %95 Ci | [NR] |
| Platform | Affymetrix [6036699] (imputed) |
| CNV | N |
| Mapped trait | age-related macular degeneration |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
| Study accession | GCST001100 |
| PubMed ID | 20385826 |
| Journal | Proc Natl Acad Sci U S A |
| Link | www.ncbi.nlm.nih.gov/pubmed/20385826 |
| Study | Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). |
| Disease/Trait | Age-related macular degeneration |
| Initial sample | 979 cases, 1,709 controls |
| Replication sample | 868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls |
| Region | 1q31.3 |
| Chromosome id | chr1 |
| Chromosome position | 196690107 |
| Reported gene | CFH |
| Mapped gene | CFH |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3075 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1061170-? |
| SNPs | rs1061170 |
| Merged | 0 |
| SNP id current | 1061170 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | NR |
| P value | 4E-117 |
| Pvalue mlog | 116.397940008672 |
| P value text | |
| Or beta | |
| %95 Ci | |
| Platform | Affymetrix [632932] |
| CNV | N |
| Mapped trait | age-related macular degeneration |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
| Study accession | GCST000653 |
| PubMed ID | 22705344 |
| Journal | Ophthalmology |
| Link | www.ncbi.nlm.nih.gov/pubmed/22705344 |
| Study | Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. |
| Disease/Trait | Age-related macular degeneration (CNV) |
| Initial sample | 1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls |
| Replication sample | 4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls |
| Region | 1q31.3 |
| Chromosome id | chr1 |
| Chromosome position | 196690107 |
| Reported gene | CFH |
| Mapped gene | CFH |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3075 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1061170-? |
| SNPs | rs1061170 |
| Merged | 0 |
| SNP id current | 1061170 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.371 |
| P value | 1E-108 |
| Pvalue mlog | 108 |
| P value text | |
| Or beta | 2.78 |
| %95 Ci | [2.5-3.03] |
| Platform | Affymetrix, Illumina [6036699] (imputed) |
| CNV | N |
| Mapped trait | age-related macular degeneration |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
| Study accession | GCST001579 |
| PubMed ID | 22705344 |
| Journal | Ophthalmology |
| Link | www.ncbi.nlm.nih.gov/pubmed/22705344 |
| Study | Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. |
| Disease/Trait | Age-related macular degeneration (GA) |
| Initial sample | 819 European ancestry geographic atrophy cases, 4,134 European ancestry controls |
| Replication sample | NA |
| Region | 1q31.3 |
| Chromosome id | chr1 |
| Chromosome position | 196690107 |
| Reported gene | CFH |
| Mapped gene | CFH |
| Upstream gene id | |
| Downstream gene id | |
| SNP gene ids | 3075 |
| Upstream gene distance | |
| Downstream gene distance | |
| SNP risk allele | rs1061170-? |
| SNPs | rs1061170 |
| Merged | 0 |
| SNP id current | 1061170 |
| Context | missense_variant |
| Intergenic | 0 |
| Allele frequency | 0.371 |
| P value | 5E-67 |
| Pvalue mlog | 66.3010299956639 |
| P value text | |
| Or beta | 2.78 |
| %95 Ci | [2.5-3.13] |
| Platform | Affymetrix, Illumina [6036699] (imputed) |
| CNV | N |
| Mapped trait | age-related macular degeneration |
| Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
| Study accession | GCST001578 |
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