Human SNP ID | rs6545278 |
---|---|
Human chromosome | chr2 |
Human SNP position | 52478914 |
Pig chromosome | chr3 |
Pig SNP position | 93837594 |
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 | 2p16.3 |
Chromosome id | chr2 |
Chromosome position | 52478914 |
Reported gene | AC139712.2 |
Mapped gene | LOC730100 - LOC105374598 |
Upstream gene id | 730100 |
Downstream gene id | 105374598 |
SNP gene ids | |
Upstream gene distance | 70997 |
Downstream gene distance | 212389 |
SNP risk allele | rs6545278-? |
SNPs | rs6545278 |
Merged | 0 |
SNP id current | 6545278 |
Context | upstream_gene_variant |
Intergenic | 1 |
Allele frequency | |
P value | 0.0000008 |
Pvalue mlog | 6.09691001300805 |
P value text | (EA, Inherited) |
Or beta | 2.62 |
%95 Ci | [1.76-3.90] |
Platform | Illumina [2421290] (imputed) |
CNV | N |
Mapped trait | Conotruncal heart malformations |
Mapped trait URI | http://www.orpha.net/ORDO/Orphanet_2445 |
Study accession | GCST002438 |