SNP Detail For rs114254831
1.Mapping Information
Human SNP ID rs114254831
Human chromosome chr6
Human SNP position 32187804
Pig chromosome chr7
Pig SNP position 28045360
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
Region6p21.32
Chromosome idchr6
Chromosome position32187804
Reported geneC2, CFB, SKIV2L, PBX2
Mapped genePBX2
Upstream gene id
Downstream gene id
SNP gene ids5089
Upstream gene distance
Downstream gene distance
SNP risk allelers114254831-?
SNPsrs114254831
Merged1
SNP id current204993
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000000000009
Pvalue mlog11.0457574905606
P value text(EA)
Or beta1.13
%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