SNP Detail For rs2285714
1.Mapping Information
Human SNP ID rs2285714
Human chromosome chr4
Human SNP position 109717654
Pig chromosome chr8
Pig SNP position 120593805
2.Annotation Information
PubMed ID20385819
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/20385819
StudyGenetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Disease/TraitAge-related macular degeneration
Initial sample2,157 European ancestry cases, 1,150 European ancestry controls
Replication sample7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls
Region4q25
Chromosome idchr4
Chromosome position109717654
Reported geneCFI
Mapped genePLA2G12A
Upstream gene id
Downstream gene id
SNP gene ids81579
Upstream gene distance
Downstream gene distance
SNP risk allelers2285714-T
SNPsrs2285714
Merged0
SNP id current2285714
Contextsynonymous_variant
Intergenic0
Allele frequency0.395
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta1.31
%95 Ci[1.18-1.45]
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST000652