SNP Detail For rs3812762
1.Mapping Information
Human SNP ID rs3812762
Human chromosome chr11
Human SNP position 8730093
Pig chromosome chr9
Pig SNP position 743965
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
Region11p15.4
Chromosome idchr11
Chromosome position8730093
Reported geneST5
Mapped geneST5
Upstream gene id
Downstream gene id
SNP gene ids6764
Upstream gene distance
Downstream gene distance
SNP risk allelers3812762-G
SNPsrs3812762
Merged0
SNP id current3812762
Contextmissense_variant
Intergenic0
Allele frequency0.6748
P value0.000001
Pvalue mlog6
P value text
Or beta1.1965
%95 Ci[NR]
PlatformIllumina [8207076] (imputed)
CNVN
Mapped traithypospadias
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004209
Study accessionGCST002563