SNP Detail For rs8000245
1.Mapping Information
Human SNP ID rs8000245
Human chromosome chr13
Human SNP position 74156255
Pig chromosome chr11
Pig SNP position 51036603
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 (rim area)
Initial sample1,368 European ancestry twins from 666 families
Replication sample848 European ancestry twins from 531 families
Region13q22.1
Chromosome idchr13
Chromosome position74156255
Reported geneLOC730245
Mapped geneKLF12
Upstream gene id
Downstream gene id
SNP gene ids11278
Upstream gene distance
Downstream gene distance
SNP risk allelers8000245-C
SNPsrs8000245
Merged0
SNP id current8000245
Contextintergenic_variant
Intergenic0
Allele frequencyNR
P value0.000008
Pvalue mlog5.09691001300805
P value text
Or beta0.212
%95 Ci[0.090-0.334] unit increase
PlatformIllumina [~ 2740000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST000658