SNP Detail For rs570618
1.Mapping Information
Human SNP ID rs570618
Human chromosome chr1
Human SNP position 196687934
Pig chromosome chr10
Pig SNP position 24375688
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
Region1q31.3
Chromosome idchr1
Chromosome position196687934
Reported geneCFH
Mapped geneCFH
Upstream gene id
Downstream gene id
SNP gene ids3075
Upstream gene distance
Downstream gene distance
SNP risk allelers570618-?
SNPsrs570618
Merged0
SNP id current570618
Contextintron_variant
Intergenic0
Allele frequencyNR
P value2E-590
Pvalue mlog589.698970004336
P value text(EA)
Or beta2.38
%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