Human SNP ID | rs4563609 |
---|---|
Human chromosome | chr5 |
Human SNP position | 158490267 |
Pig chromosome | chr16 |
Pig SNP position | 70888977 |
PubMed ID | 25108383 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25108383 |
Study | Genome-wide association analyses identify variants in developmental genes associated with hypospadias. |
Disease/Trait | Hypospadias |
Initial sample | 1,006 European ancestry male child cases, 2,390 European ancestry male child controls, 3,096 European ancestry female child controls |
Replication sample | 1,972 European ancestry male child cases, 1,401 European ancestry male child controls, 405 European ancestry female child controls, 6 European ancestry child controls |
Region | 5q33.3 |
Chromosome id | chr5 |
Chromosome position | 158490267 |
Reported gene | EBF1 |
Mapped gene | LOC105377681 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105377681 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4563609-A |
SNPs | rs4563609 |
Merged | 0 |
SNP id current | 4563609 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.65 |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | 1.2 |
%95 Ci | [NR] |
Platform | Illumina [8207076] (imputed) |
CNV | N |
Mapped trait | hypospadias |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004209 |
Study accession | GCST002563 |