Human SNP ID | rs6140038 |
---|---|
Human chromosome | chr20 |
Human SNP position | 6601515 |
Pig chromosome | chr17 |
Pig SNP position | 16931739 |
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 | 20p12.3 |
Chromosome id | chr20 |
Chromosome position | 6601515 |
Reported gene | AL121911.1 |
Mapped gene | CASC20 - LOC105372516 |
Upstream gene id | 101929244 |
Downstream gene id | 105372516 |
SNP gene ids | |
Upstream gene distance | 73056 |
Downstream gene distance | 129276 |
SNP risk allele | rs6140038-? |
SNPs | rs6140038 |
Merged | 0 |
SNP id current | 6140038 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | 0.011 |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | (EA, Inherited) |
Or beta | 5.24 |
%95 Ci | [2.50-10.99] |
Platform | Illumina [2421290] (imputed) |
CNV | N |
Mapped trait | Conotruncal heart malformations |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_2445 |
Study accession | GCST002438 |