rs2290732
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2290732(A;G) |
| Make rs2290732(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 161897892 |
| Gene | GABRA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2290732 |
| dbSNP (classic) | rs2290732 |
| ClinGen | rs2290732 |
| ebi | rs2290732 |
| HLI | rs2290732 |
| Exac | rs2290732 |
| Gnomad | rs2290732 |
| Varsome | rs2290732 |
| LitVar | rs2290732 |
| Map | rs2290732 |
| PheGenI | rs2290732 |
| Biobank | rs2290732 |
| 1000 genomes | rs2290732 |
| hgdp | rs2290732 |
| ensembl | rs2290732 |
| geneview | rs2290732 |
| scholar | rs2290732 |
| rs2290732 | |
| pharmgkb | rs2290732 |
| gwascentral | rs2290732 |
| openSNP | rs2290732 |
| 23andMe | rs2290732 |
| SNPshot | rs2290732 |
| SNPdbe | rs2290732 |
| MSV3d | rs2290732 |
| GWAS Ctlg | rs2290732 |
| GMAF | 0.4366 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20404824] Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor beta(2) subunit
[PMID 24482035] Benzodiazepine-Associated Hepatic Encephalopathy Significantly Increased Healthcare Utilization and Medical Costs of Chinese Cirrhotic Patients: 7-Year Experience
[PMID 22591328
] Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.
| ClinVar | |
|---|---|
| Risk | rs2290732(G;G) |
| Alt | rs2290732(G;G) |
| Reference | Rs2290732(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Juvenile myoclonic epilepsy |
| Variation | info |
| Gene | GABRA1 |
| CLNDBN | Juvenile myoclonic epilepsy |
| Reversed | 0 |
| HGVS | NC_000005.9:g.161324898A>G |
| CLNSRC | |
| CLNACC | RCV000308049.1, |
