SNP Detail For rs4563609
1.Mapping Information
Human SNP ID rs4563609
Human chromosome chr5
Human SNP position 158490267
Pig chromosome chr16
Pig SNP position 70888977
2.Annotation Information
PubMed ID25108383
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25108383
StudyGenome-wide association analyses identify variants in developmental genes associated with hypospadias.
Disease/TraitHypospadias
Initial sample1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls
Replication sample1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls
Region5q33.3
Chromosome idchr5
Chromosome position158490267
Reported geneEBF1
Mapped geneLOC105377681
Upstream gene id
Downstream gene id
SNP gene ids105377681
Upstream gene distance
Downstream gene distance
SNP risk allelers4563609-A
SNPsrs4563609
Merged0
SNP id current4563609
Contextintron_variant
Intergenic0
Allele frequency0.65
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta1.2
%95 Ci[NR]
PlatformIllumina [8207076] (imputed)
CNVN
Mapped traithypospadias
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004209
Study accessionGCST002563