rs986527
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs986527(C;C) |
| Make rs986527(C;T) |
| Make rs986527(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 31614934 |
| Gene | ELP4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs986527 |
| dbSNP (classic) | rs986527 |
| ClinGen | rs986527 |
| ebi | rs986527 |
| HLI | rs986527 |
| Exac | rs986527 |
| Gnomad | rs986527 |
| Varsome | rs986527 |
| LitVar | rs986527 |
| Map | rs986527 |
| PheGenI | rs986527 |
| Biobank | rs986527 |
| 1000 genomes | rs986527 |
| hgdp | rs986527 |
| ensembl | rs986527 |
| geneview | rs986527 |
| scholar | rs986527 |
| rs986527 | |
| pharmgkb | rs986527 |
| gwascentral | rs986527 |
| openSNP | rs986527 |
| 23andMe | rs986527 |
| SNPshot | rs986527 |
| SNPdbe | rs986527 |
| MSV3d | rs986527 |
| GWAS Ctlg | rs986527 |
| GMAF | 0.3039 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs986527 is a SNP in the elongator protein complex 4 ELP4 gene.
- Associated with rolandic epilepsy, as part of a relatively tightly linked cluster of 3 SNPs (rs964112, rs11031434, and rs986527.10.1038/ejhg.2008.26
[PMID 19172991
] Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
[PMID 17903300] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
