rs211037
| Orientation | plus |
| Stabilized | plus |
| Make rs211037(C;C) |
| Make rs211037(C;T) |
| Make rs211037(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 162101274 |
| Gene | GABRG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs211037 |
| dbSNP (classic) | rs211037 |
| ClinGen | rs211037 |
| ebi | rs211037 |
| HLI | rs211037 |
| Exac | rs211037 |
| Gnomad | rs211037 |
| Varsome | rs211037 |
| LitVar | rs211037 |
| Map | rs211037 |
| PheGenI | rs211037 |
| Biobank | rs211037 |
| 1000 genomes | rs211037 |
| hgdp | rs211037 |
| ensembl | rs211037 |
| geneview | rs211037 |
| scholar | rs211037 |
| rs211037 | |
| pharmgkb | rs211037 |
| gwascentral | rs211037 |
| openSNP | rs211037 |
| 23andMe | rs211037 |
| SNPshot | rs211037 |
| SNPdbe | rs211037 |
| MSV3d | rs211037 |
| GWAS Ctlg | rs211037 |
| GMAF | 0.3976 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20356767] Association of alpha subunit of GABA(A) receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population
[PMID 22572707] Investigation of the role of the GABRG2 gene variant in migraine
[PMID 19842164
] Association study between GABA receptor genes and anxiety spectrum disorders.
[PMID 23140995] GABRG2 rs211037 polymorphism and epilepsy: A systematic review and meta-analysis
[PMID 23287319] Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population
[PMID 24482035] Benzodiazepine-Associated Hepatic Encephalopathy Significantly Increased Healthcare Utilization and Medical Costs of Chinese Cirrhotic Patients: 7-Year Experience
| ClinVar | |
|---|---|
| Risk | rs211037(T;T) |
| Alt | rs211037(T;T) |
| Reference | rs211037(C;C) |
| Significance | Other |
| Disease | not specified Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus |
| Variation | info |
| Gene | GABRG2 |
| CLNDBN | not specified Severe myoclonic epilepsy in infancy Generalized epilepsy with febrile seizures plus |
| Reversed | 0 |
| HGVS | NC_000005.9:g.161528280C>T |
| CLNSRC | ClinVar Emory University University of Chicago |
| CLNACC | RCV000079320.8, RCV000336371.1, RCV000393381.1, |
[PMID 26452361] Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis
