SNP Detail For rs147859257
1.Mapping Information
Human SNP ID rs147859257
Human chromosome chr19
Human SNP position 6718135
Pig chromosome chr2
Pig SNP position 72764023
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
Region19p13.3
Chromosome idchr19
Chromosome position6718135
Reported geneC3
Mapped geneC3
Upstream gene id
Downstream gene id
SNP gene ids718
Upstream gene distance
Downstream gene distance
SNP risk allelers147859257-?
SNPsrs147859257
Merged0
SNP id current147859257
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value3E-28
Pvalue mlog27.5228787452803
P value text(EA)
Or beta2.86
%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