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, |