SNP Detail For rs428445
1.Mapping Information
Human SNP ID rs428445
Human chromosome chr20
Human SNP position 56461491
Pig chromosome chr17
Pig SNP position 64144602
2.Annotation Information
PubMed ID25367360
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25367360
StudyGenome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Disease/TraitRefractive astigmatism
Initial sample8,487 European ancestry cases aged 25 years or older, 23,481 European ancestry controls aged 25 years or older, 907 European ancestry cases aged less than 25 years, 4,733 European ancestry controls aged less than 25 years, 3,076 Asian ancestry cases aged
Replication sampleNA
Region20q13.31
Chromosome idchr20
Chromosome position56461491
Reported geneCASS4, GCNT7
Mapped geneRPL39P - RTFDC1
Upstream gene id140719
Downstream gene id51507
SNP gene ids
Upstream gene distance1859
Downstream gene distance7094
SNP risk allelers428445-T
SNPsrs428445
Merged0
SNP id current428445
Contextupstream_gene_variant
Intergenic1
Allele frequency0.713
P value0.000002
Pvalue mlog5.69897000433601
P value text(Asian, 25 years or older)
Or beta1.314
%95 Ci[1.175-1.470]
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitAstigmatism
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0000483
Study accessionGCST002685