Human SNP ID | rs5754227 |
---|---|
Human chromosome | chr22 |
Human SNP position | 32709831 |
Pig chromosome | chr5 |
Pig SNP position | 12121740 |
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 | 22q12.3 |
Chromosome id | chr22 |
Chromosome position | 32709831 |
Reported gene | SYN3, TIMP3 |
Mapped gene | SYN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8224 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs5754227-? |
SNPs | rs5754227 |
Merged | 0 |
SNP id current | 5754227 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 1E-24 |
Pvalue mlog | 24 |
P value text | (EA) |
Or beta | 1.2987013 |
%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 |