SNP Detail For rs9564692
1.Mapping Information
Human SNP ID rs9564692
Human chromosome chr13
Human SNP position 31247103
Pig chromosome chr11
Pig SNP position 7808854
2.Annotation Information
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
Region13q12.3
Chromosome idchr13
Chromosome position31247103
Reported geneB3GALTL
Mapped geneB3GALTL
Upstream gene id
Downstream gene id
SNP gene ids145173
Upstream gene distance
Downstream gene distance
SNP risk allelers9564692-?
SNPsrs9564692
Merged0
SNP id current9564692
Contextsplice_region_variant
Intergenic0
Allele frequencyNR
P value0.0000000003
Pvalue mlog9.52287874528033
P value text(EA)
Or beta1.1235955
%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