SNP Detail For rs3138141
1.Mapping Information
Human SNP ID rs3138141
Human chromosome chr12
Human SNP position 55721994
Pig chromosome chr5
Pig SNP position 22648445
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
Region12q13.2
Chromosome idchr12
Chromosome position55721994
Reported geneRDH5, CD63, MMP19
Mapped geneRDH5, BLOC1S1-RDH5
Upstream gene id
Downstream gene id
SNP gene ids5959, 100528022
Upstream gene distance
Downstream gene distance
SNP risk allelers3138141-?
SNPsrs3138141
Merged0
SNP id current3138141
Context3_prime_UTR_variant
Intergenic0
Allele frequencyNR
P value0.000000004
Pvalue mlog8.39794000867203
P value text(EA)
Or beta1.16
%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