Human SNP ID | rs13026414 |
---|---|
Human chromosome | chr2 |
Human SNP position | 57706920 |
Pig chromosome | chr3 |
Pig SNP position | 88502903 |
PubMed ID | 22949513 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22949513 |
Study | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 |
Disease/Trait | Epilepsy (generalized) |
Initial sample | 702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls |
Replication sample | 347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry |
Region | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 57706920 |
Reported gene | intergenic |
Mapped gene | LOC105377632, LOC105377629, LOC101927235 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 105377632, 105377629, 101927235 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs13026414-C |
SNPs | rs13026414 |
Merged | 0 |
SNP id current | 13026414 |
Context | intergenic_variant |
Intergenic | 0 |
Allele frequency | 0.576 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | (All GGE) |
Or beta | 1.23 |
%95 Ci | [1.15-1.32] |
Platform | Affymetrix [4560000] (imputed) |
CNV | N |
Mapped trait | epilepsy |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000474 |
Study accession | GCST001662 |