Human SNP ID | rs1497062 |
---|---|
Human chromosome | chr13 |
Human SNP position | 82007307 |
Pig chromosome | chr11 |
Pig SNP position | 58394394 |
PubMed ID | 26194203 |
---|---|
Journal | G3 (Bethesda) |
Link | www.ncbi.nlm.nih.gov/pubmed/26194203 |
Study | Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects. |
Disease/Trait | Atrioventricular septal defects in Down syndrome |
Initial sample | 210 European ancestry cases with atrioventricular septal defects, 242 European ancestry cases with normal hearts |
Replication sample | NA |
Region | 13q31.1 |
Chromosome id | chr13 |
Chromosome position | 82007307 |
Reported gene | NR |
Mapped gene | LOC105370284 - LOC105370285 |
Upstream gene id | 105370284 |
Downstream gene id | 105370285 |
SNP gene ids | |
Upstream gene distance | 158557 |
Downstream gene distance | 342896 |
SNP risk allele | rs1497062-? |
SNPs | rs1497062 |
Merged | |
SNP id current | 1497062 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000005 |
Pvalue mlog | 5.30102999566398 |
P value text | |
Or beta | 1.946 |
%95 Ci | [1.46-2.59] |
Platform | Affymetrix [606195] |
CNV | N |
Mapped trait | Atrioventricular canal defect, Down syndrome |
Mapped trait URI | http://purl.obolibrary.org/obo/HP_0006695, http://www.ebi.ac.uk/efo/EFO_0001064 |
Study accession | GCST003047 |