SNP Detail For rs1801085
1.Mapping Information
Human SNP ID rs1801085
Human chromosome chr7
Human SNP position 27128971
Pig chromosome chr18
Pig SNP position 50078385
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
Region7p15.2
Chromosome idchr7
Chromosome position27128971
Reported geneHOXA4
Mapped geneHOXA4, HOXA3
Upstream gene id
Downstream gene id
SNP gene ids3201, 3200
Upstream gene distance
Downstream gene distance
SNP risk allelers1801085-G
SNPsrs1801085
Merged0
SNP id current1801085
Contextsplice_region_variant
Intergenic0
Allele frequency0.091
P value0.00000000001
Pvalue mlog11
P value text
Or beta1.45
%95 Ci[NR]
PlatformIllumina [8207076] (imputed)
CNVN
Mapped traithypospadias
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004209
Study accessionGCST002563