SNP Detail For rs55975637
1.Mapping Information
Human SNP ID rs55975637
Human chromosome chr3
Human SNP position 99701009
Pig chromosome chr13
Pig SNP position 169247764
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
Region3q12.1
Chromosome idchr3
Chromosome position99701009
Reported geneCOL8A1
Mapped geneCOL8A1
Upstream gene id
Downstream gene id
SNP gene ids1295
Upstream gene distance
Downstream gene distance
SNP risk allelers55975637-?
SNPsrs55975637
Merged0
SNP id current55975637
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000001
Pvalue mlog8
P value text(EA)
Or beta1.15
%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