Human SNP ID | rs943080 |
---|---|
Human chromosome | chr6 |
Human SNP position | 43858890 |
Pig chromosome | chr7 |
Pig SNP position | 44610873 |
PubMed ID | 23455636 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23455636 |
Study | Seven new loci associated with age-related macular degeneration. |
Disease/Trait | Age-related macular degeneration |
Initial sample | 6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls |
Replication sample | 9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls |
Region | 6p21.1 |
Chromosome id | chr6 |
Chromosome position | 43858890 |
Reported gene | VEGFA |
Mapped gene | LOC107986598 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 107986598 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs943080-T |
SNPs | rs943080 |
Merged | 0 |
SNP id current | 943080 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.51 |
P value | 0.0000000000000009 |
Pvalue mlog | 15.0457574905606 |
P value text | |
Or beta | 1.15 |
%95 Ci | [1.12-1.18] |
Platform | Affymetrix, Illumina [2442884] (imputed) |
CNV | N |
Mapped trait | age-related macular degeneration |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365 |
Study accession | GCST001884 |
PubMed ID | 26691988 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26691988 |
Study | A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. |
Disease/Trait | Advanced age-related macular degeneration |
Initial sample | 16,144 European ancestry cases, 17,832 European ancestry controls |
Replication sample | 473 Asian ancestry cases, 1,099 Asian ancestry controls, 52 African ancestry cases, 361 African ancestry cases, 254 other non-European ancestry cases, 694 other non-European ancestry controls |
Region | 6p21.1 |
Chromosome id | chr6 |
Chromosome position | 43858890 |
Reported gene | VEGFA |
Mapped gene | LOC107986598 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 107986598 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs943080-? |
SNPs | rs943080 |
Merged | 0 |
SNP id current | 943080 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000000001 |
Pvalue mlog | 14 |
P value text | (EA) |
Or beta | 1.1363636 |
%95 Ci | |
Platform | Illumina [12023830] (imputed) |
CNV | N |
Mapped trait | age-related macular degeneration, wet macular degeneration |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365, http://www.ebi.ac.uk/efo/EFO_0004683 |
Study accession | GCST003219 |