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rs2290732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2290732(A;G)
Make rs2290732(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position161897892
GeneGABRA1
is asnp
is mentioned by
dbSNPrs2290732
dbSNP (classic)rs2290732
ClinGenrs2290732
ebirs2290732
HLIrs2290732
Exacrs2290732
Gnomadrs2290732
Varsomers2290732
LitVarrs2290732
Maprs2290732
PheGenIrs2290732
Biobankrs2290732
1000 genomesrs2290732
hgdprs2290732
ensemblrs2290732
geneviewrs2290732
scholarrs2290732
googlers2290732
pharmgkbrs2290732
gwascentralrs2290732
openSNPrs2290732
23andMers2290732
SNPshotrs2290732
SNPdbers2290732
MSV3drs2290732
GWAS Ctlgrs2290732
GMAF0.4366
Max Magnitude0
? (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 22591328OA-icon.png] 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,