Human SNP ID | rs641153 |
---|---|
Human chromosome | chr6 |
Human SNP position | 31946403 |
Pig chromosome | chr7 |
Pig SNP position | 27777446 |
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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31946403 |
Reported gene | CFB |
Mapped gene | CFB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 629 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs641153-? |
SNPs | rs641153 |
Merged | 0 |
SNP id current | 641153 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.9 |
P value | 6E-31 |
Pvalue mlog | 30.2218487496163 |
P value text | |
Or beta | 1.85 |
%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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31946403 |
Reported gene | CFB, C2 |
Mapped gene | CFB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 629 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs641153-? |
SNPs | rs641153 |
Merged | 0 |
SNP id current | 641153 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 2E-20 |
Pvalue mlog | 19.698970004336 |
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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31946403 |
Reported gene | CFB |
Mapped gene | CFB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 629 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs641153-? |
SNPs | rs641153 |
Merged | 0 |
SNP id current | 641153 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.899 |
P value | 0.00000000000000001 |
Pvalue mlog | 17 |
P value text | |
Or beta | 2.22 |
%95 Ci | [1.85-2.63] |
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 | 6p21.33 |
Chromosome id | chr6 |
Chromosome position | 31946403 |
Reported gene | CFB |
Mapped gene | CFB |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 629 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs641153-? |
SNPs | rs641153 |
Merged | 0 |
SNP id current | 641153 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.899 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | |
Or beta | 2.13 |
%95 Ci | [1.69-2.7] |
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 |