SNP Detail For rs943080
1.Mapping Information
Human SNP ID rs943080
Human chromosome chr6
Human SNP position 43858890
Pig chromosome chr7
Pig SNP position 44610873
2.Annotation Information
PubMed ID23455636
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23455636
StudySeven new loci associated with age-related macular degeneration.
Disease/TraitAge-related macular degeneration
Initial sample6,713 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 sample9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls
Region6p21.1
Chromosome idchr6
Chromosome position43858890
Reported geneVEGFA
Mapped geneLOC107986598
Upstream gene id
Downstream gene id
SNP gene ids107986598
Upstream gene distance
Downstream gene distance
SNP risk allelers943080-T
SNPsrs943080
Merged0
SNP id current943080
Contextintergenic_variant
Intergenic0
Allele frequency0.51
P value0.0000000000000009
Pvalue mlog15.0457574905606
P value text
Or beta1.15
%95 Ci[1.12-1.18]
PlatformAffymetrix, Illumina [2442884] (imputed)
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST001884
PubMed ID26691988
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26691988
StudyA large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Disease/TraitAdvanced age-related macular degeneration
Initial sample16,144 European ancestry cases, 17,832 European ancestry controls
Replication sample473 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
Region6p21.1
Chromosome idchr6
Chromosome position43858890
Reported geneVEGFA
Mapped geneLOC107986598
Upstream gene id
Downstream gene id
SNP gene ids107986598
Upstream gene distance
Downstream gene distance
SNP risk allelers943080-?
SNPsrs943080
Merged0
SNP id current943080
Contextintergenic_variant
Intergenic0
Allele frequencyNR
P value0.00000000000001
Pvalue mlog14
P value text(EA)
Or beta1.1363636
%95 Ci
PlatformIllumina [12023830] (imputed)
CNVN
Mapped traitage-related macular degeneration, wet macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365, http://www.ebi.ac.uk/efo/EFO_0004683
Study accessionGCST003219