Human SNP ID | rs2228638 |
---|---|
Human chromosome | chr10 |
Human SNP position | 33186354 |
Pig chromosome | chr10 |
Pig SNP position | 61659989 |
PubMed ID | 23297363 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23297363 |
Study | Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. |
Disease/Trait | Tetralogy of Fallot |
Initial sample | 835 European ancestry cases, 5,159 European ancestry controls |
Replication sample | 798 European ancestry cases, 2,931 European ancestry controls |
Region | 10p11.22 |
Chromosome id | chr10 |
Chromosome position | 33186354 |
Reported gene | NRP1 |
Mapped gene | NRP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8829 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2228638-A |
SNPs | rs2228638 |
Merged | 0 |
SNP id current | 2228638 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.096 |
P value | 0.0000002 |
Pvalue mlog | 6.69897000433601 |
P value text | |
Or beta | 1.447 |
%95 Ci | [1.239-1.69] |
Platform | Illumina [516131] |
CNV | N |
Mapped trait | tetralogy of fallot |
Mapped trait URI | http://purl.obolibrary.org/obo/HP_0001636 |
Study accession | GCST001807 |