SNP Detail For rs5754227
1.Mapping Information
Human SNP ID rs5754227
Human chromosome chr22
Human SNP position 32709831
Pig chromosome chr5
Pig SNP position 12121740
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
Region22q12.3
Chromosome idchr22
Chromosome position32709831
Reported geneSYN3, TIMP3
Mapped geneSYN3
Upstream gene id
Downstream gene id
SNP gene ids8224
Upstream gene distance
Downstream gene distance
SNP risk allelers5754227-?
SNPsrs5754227
Merged0
SNP id current5754227
Contextintron_variant
Intergenic0
Allele frequencyNR
P value1E-24
Pvalue mlog24
P value text(EA)
Or beta1.2987013
%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