Human SNP ID | rs3138141 |
---|---|
Human chromosome | chr12 |
Human SNP position | 55721994 |
Pig chromosome | chr5 |
Pig SNP position | 22648445 |
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 | 12q13.2 |
Chromosome id | chr12 |
Chromosome position | 55721994 |
Reported gene | RDH5, CD63, MMP19 |
Mapped gene | RDH5, BLOC1S1-RDH5 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 5959, 100528022 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3138141-? |
SNPs | rs3138141 |
Merged | 0 |
SNP id current | 3138141 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000004 |
Pvalue mlog | 8.39794000867203 |
P value text | (EA) |
Or beta | 1.16 |
%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 |