SNP Detail For rs144629244
1.Mapping Information
Human SNP ID rs144629244
Human chromosome chr6
Human SNP position 31979015
Pig chromosome chr7
Pig SNP position 27747068
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
Region6p21.33
Chromosome idchr6
Chromosome position31979015
Reported geneC2, CFB, SKIV2L
Mapped geneSTK19
Upstream gene id
Downstream gene id
SNP gene ids8859
Upstream gene distance
Downstream gene distance
SNP risk allelers144629244-?
SNPsrs144629244
Merged1
SNP id current2746394
Contextsplice_region_variant
Intergenic0
Allele frequencyNR
P value0.000003
Pvalue mlog5.52287874528033
P value text(EA)
Or beta1.39
%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