SNP Detail For rs12741973
1.Mapping Information
Human SNP ID rs12741973
Human chromosome chr1
Human SNP position 10578547
Pig chromosome chr6
Pig SNP position 64761018
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
Region1p36.22
Chromosome idchr1
Chromosome position10578547
Reported genePEX14
Mapped genePEX14
Upstream gene id
Downstream gene id
SNP gene ids5195
Upstream gene distance
Downstream gene distance
SNP risk allelers12741973-C
SNPsrs12741973
Merged0
SNP id current12741973
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta0.167
%95 Ci[0.087-0.247] unit decrease
PlatformIllumina [~ 2740000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST000658