SNP Detail For rs491391
1.Mapping Information
Human SNP ID rs491391
Human chromosome chr2
Human SNP position 140604489
Pig chromosome chr15
Pig SNP position 12644165
2.Annotation Information
PubMed ID20395239
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20395239
StudyGenome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Disease/TraitOptic nerve measurement (disc area)
Initial sample1,368 European ancestry twins from 666 families
Replication sample848 European ancestry twins from 531 families
Region2q22.1
Chromosome idchr2
Chromosome position140604489
Reported geneLRP1B
Mapped geneLRP1B
Upstream gene id
Downstream gene id
SNP gene ids53353
Upstream gene distance
Downstream gene distance
SNP risk allelers491391-A
SNPsrs491391
Merged0
SNP id current491391
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta0.407
%95 Ci[0.22-0.59] unit decrease
PlatformIllumina [~ 2740000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST000657