Human SNP ID | rs436582 |
---|---|
Human chromosome | chr9 |
Human SNP position | 116194389 |
Pig chromosome | chr1 |
Pig SNP position | 287945628 |
PubMed ID | 24800985 |
---|---|
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/24800985 |
Study | Genome-wide association study of maternal and inherited loci for conotruncal heart defects. |
Disease/Trait | Conotruncal heart defects |
Initial sample | 537 European ancestry case-parent trios, 213 case-parent trios |
Replication sample | 348 European ancestry case-parent trios, 10 case-parent trios |
Region | 9q33.1 |
Chromosome id | chr9 |
Chromosome position | 116194389 |
Reported gene | PAPPA |
Mapped gene | PAPPA |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 5069 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs436582-? |
SNPs | rs436582 |
Merged | 0 |
SNP id current | 436582 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | (EA, Inherited) |
Or beta | 2.64 |
%95 Ci | [1.73-4.03] |
Platform | Illumina [2421290] (imputed) |
CNV | N |
Mapped trait | Conotruncal heart malformations |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_2445 |
Study accession | GCST002438 |